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Objective: This study aimed to reveal whether patients with thalassemia major, who were followed up in our clinic, were given information about hematopoietic stem cell transplantation (HSCT) preparations, results, and complications. Materials and Methods: A total of 190 patients diagnosed with thalassemia major between 1991 and 2019 at the Pediatric Hematology-Oncology Clinics of Istanbul Kanuni Sultan Suleyman Education and Research Hospital were retrospectively analyzed. Results: Median age of the patients and follow-up time were 9 years (range 1-5) and 42.9 months (range 1-285), respectively. The IVSI-110 was the most frequently (30.4%) encountered mutation; there was no information about HSCT in 28 patients' files, 36 patients had no human leucocyte antigen-matched donors, and 38 patients had undergone HSCT. Pretransplant median ferritin levels in thalassemia major patients who had undergone HSCT and who had not undergone HSCT were 1751 ng/mL (350-4000) and 1300 ng/mL (396-4000) (P = .149), respectively. The median age of HSCT was 6.5 years, and 24 patients were transplanted from human leucocyte antigen-matched sibling donors, 8 from human leucocyte antigen-matched family donors, and 5 patients from human leucocyte antigen-matched unrelated donors with the myeloabla- tive conditioning regimen. Acute and chronic complication rate was higher in patients transplanted from human leucocyte antigen-matched family donors compared to human leucocyte antigen-matched sibling donors (50% vs 28% and 60% vs 8.3%), respectively; complication odd ratio was 6.7 (%95 CI 1.4-32). Conclusion: Human leukocyte antigen typing, donor search, and timely information about HSCT were noted to be performed in two-thirds of the thalassemia major patients, and around half of the patients underwent HSCT. Both acute and chronic complications were significantly higher in patients transplanted from matched unrelated donors. [ABSTRACT FROM AUTHOR]

Statement of the Problem: Iron overload in β-thalassemia major leads to oxidative damage to tissues, which may have an important role in the onset and progression of oral diseases. Purpose: The aim of this study was to evaluate the salivary oxidative stress indicators, total protein, iron, and pH in children with β-thalassemia major and their relationship with the status of dental caries in comparison with healthy children. Materials and Method: In this case-control study, 68 β-thalassemia major and healthy children, who were age- and sex matched, were selected. Two mililiters of saliva was collected from each child. The pH was measured using pH meter paper. Thiobarbituric acid reactive substances (TBARS) as salivary lipid peroxidation index, total antioxidant capacity (TAC), total protein, and iron were measured by spectrophotometry. Data were analyzed by SPSS ver. 22 software with Pearson and independent samples t-test. Results: TBARS, TAC, iron and dmft index in the β-thalassemia major group were significantly higher and pH was significantly lower than the control group (p< 0.001). The total protein difference between the two groups was not significant (p= 0.081). Conclusion: Considering the higher salivary TBARS in the β-thalassemia major group, oxidative stress can be considered as a risk factor for dental caries in children with β-thalassemia major. Prescription of antioxidant supplements especially natural antioxidants in the diet of children with β-thalassemia major is recommended to reduce oxidative stress. [ABSTRACT FROM AUTHOR]

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In patients with thalassemia major (TM), cardiac magnetic resonance feature-tracking (CMR-FT) has been shown to be an effective method for diagnosing subclinical left ventricular (LV) dysfunction. This study aimed to determine whether CMR-FT could detect abnormal RV dysfunction in patients with a normal right ventricular ejection fraction (RVEF). We performed a retrospective analysis of TM patients admitted to Dubai's Rashid Hospital between July 2019 and March 2021. The inclusion criteria were TM patients with SSFP cine with T2* (T2*-weighted imaging), while exclusion criteria included any other cardiovascular disease. When there was no myocardial iron overload (MIO) (T2* ≥ 20 ms) and when there was significant MIO (T2* < 20 ms), the CMR-FT was used to correlate with EF. Among the 89 participants, there were 46 men (51.7%) and 43 women (48.3%), with a mean age of 26.14 ± 7.4 years (range from 10 to 48 years). Forty-six patients (51.69%) did not have MIO, while 43 individuals did (48.31%). Thirty-nine patients (32.6%) were diagnosed with severe MIO, while seventeen (19.1%) were diagnosed with mild to moderate MIO. A significant correlation existed between RVEF and T2* values (r = 0.274, p = 0.014) and between left ventricular ejection fraction (LVEF) and T2* values (r = 0.256, p = 0.022). Using a multiple logistic regression model with predictors such as right ventricular longitudinal strain (RVGLS), LV ejection fraction (LV EF), and hemoglobin, abnormal myocardial iron overload can be predicted. This model demonstrates an AUC of 78.3%, a sensitivity of 72%, and a specificity of 76%. In the group with preserved RVEF > 53%, the left ventricular radial strain (LVGRS) (p = 0.001), right ventricular radial strain (RVGRS) (p = 0.000), and right ventricular basal circumferential strain (RVGCS-basal) (p = 0.000) CMR-FT strain values are significantly lower than those of the control group (p > 0.05). There was no significant correlation between the LVGLS and T2*. RVGLS was ranked among the most accurate predictors of abnormal myocardial iron overload. The LVGRS, RVGRS, and RVGCS-basal CMR-FT strain values were the best predictors of subclinical RV dysfunction in the group with preserved RVEF. The most accurate way to diagnose MIO is still T2*, but FT-strain can help us figure out how MIO affects the myocardium from a pathophysiological point of view. [ABSTRACT FROM AUTHOR]

Aims A tailored chelation therapy guided by magnetic resonance imaging (MRI) is a strategy to improve the prognosis in iron-loaded patients, in many cases still hampered by limited MRI availability. In order to address this issue, the Myocardial Iron Overload in Thalassemia (MIOT) network was established in Italy and we aimed to describe the impact of 10-year activity of this network on cardiac burden in thalassemia major (TM). Methods and results Within the MIOT network, 1746 TM patients (911 females; mean age 31.2 ± 9.1 years) were consecutively enrolled and prospectively followed by 70 thalassemia and 10 MRI centres. Patients were scanned using a multiparametric approach for assessing myocardial iron overload (MIO), biventricular function, and myocardial fibrosis. At the last MRI scan, a significant increase in global heart T2* values and a significantly higher frequency of patients with no MIO (all segmental T2* ≥20 ms) were detected, with a concordant improvement in biventricular function, particularly in patients with baseline global heart T2* <20 ms. Forty-seven percentage of patients changed the chelation regimen based on MRI. The frequency of heart failure (HF) significantly decreased after baseline MRI from 3.5 to 0.8% (P < 0.0001). Forty-six patients died during the study, and HF accounted for 34.8% of deaths. Conclusion Over 10 years, continuous monitoring of cardiac iron and a tailored chelation therapy allowed MIO reduction, with consequent improvement of cardiac function and reduction of cardiac complications and mortality from MIO-related HF. A national networking for rare diseases therefore proved effective in improving the care and reducing cardiac outcomes of TM patients. [ABSTRACT FROM AUTHOR]

We evaluated gender differences in knowledge and perception of cardiovascular disease (CVD) among Italian thalassemia major (TM) patients. An anonymous questionnaire was completed by 139 β-TM patients (87 (62.7%) females, 40.90 ± 8.03 years). Compared to females, males showed a significantly higher frequency of CVDs, and they less frequently selected tumors in general as the greatest health problem for people of the same age and gender (48.1% vs. 66.7%; p = 0.031) and as the greatest danger to their future health (26.9% vs. 43.7%; p = 0.048). CVDs were designated as the greatest danger to their future health by a significantly higher percentage of males than females (53.8% vs. 36.8%; p = 0.048). Both males and females showed a good knowledge of cardiovascular risk factors and preventive measures for CVDs. No gender differences were detected in the subjective well-being and the perceived cardiovascular risk. The perceived risk was not influenced by age, presence of cardiovascular risk factors, or disease, but no patient with a low perceived CVD risk had myocardial iron overload. Our findings highlight the need to implement future educational programs aimed at increasing the awareness of CVD as the greatest health issue, especially among the female TM population, and at informing TM patients of the different actors, besides iron, that play a role in the development of cardiovascular complications. [ABSTRACT FROM AUTHOR]

Abstract Background Beta thalassemia major (TM) is the most common inherited genetic disorder worldwide. Patients are at risk of iron overload, which leads to various forms of tissue damage, including endocrinopathies. The aim of this study was to evaluate the prevalence and risk factors of endocrine disorders in young patients with multi-transfused TM receiving iron chelation therapy. Methods The inclusion criteria included all known cases of TM according to hemoglobin electrophoresis data, aged 12 years or younger, during the study period. The patient’s age, gender, parent’s consanguinity, clinical examination, and types of iron chelating agents used were recorded. Serum ferritin level, complete blood count (CBC), blood glucose homeostasis, thyroid, and parathyroid functions were determined. Results One hundred twenty patients met the inclusion criteria; 70% of them had malnutrition. The presence of endocrine disorders was observed in 28/120 (23.33%) patients. The most common endocrine disorders were thyroid disorders, either subclinical or clinical hypothyroidism in 11/120 (9.17%) patients, followed by abnormalities in glucose homeostasis 9/120 (7.5%). The prevalence of impaired glucose tolerance, impaired fasting glucose, and diabetes mellitus in the present study was 5 (4.17%), 4 (3.33%), and 0 (00%), respectively, while the least frequent endocrine disorder seen in our patients was hypoparathyroidism in 8/120 (6.66%). We noted that high serum ferritin levels and poor patient compliance to therapy were significantly associated with increased endocrine disorders (OR 0.98, 95% CI 0.96–0.99, P = 0.003 and OR 0.38, 95% CI 0.16:0.93, P = 0.03, respectively). Combined chelating iron agents significantly decreased the prevalence of endocrine disorders when compared with monotherapy (OR 0.40, 95% CI 0.16:0.97, P = 0.04). Conclusion Endocrine disorders could occur in TM patients early before or equal to 12 years of life in about one-fourth of the patients. A high serum ferritin level and poor patient compliance to therapy were significantly associated with increased endocrine disorders. Combined iron-chelating agents were associated with a decreased prevalence of endocrine disorders when compared with monotherapy.

Background Endocrine disorders in thalassemia major children patients occur due to iron overload and hemosiderosis in endocrine organs. Early detection is needed to prevent complications and improve the quality of life. An association between serum ferritin and endocrine disorders in thalassemia patients has been inconclusive to date. Objective To analyze for possible associations between serum ferritin and endocrine disorders (short stature, delayed puberty, delayed bone age, hypothyroidism, impaired glucose tolerance, and diabetes mellitus) and the incidence of each disorder in thalassemia major. Methods There were 115 thalassemia major patients aged 10-18 years involved in our cross-sectional study from June 2019 - June 2020 in the Pediatrics Department, DR. M Hosein Hospital, Palembang, South Sumatera. Anthropometry and socioeconomic status informations were collected from physical examination and interview. Ferritin, FT4, TSH, Hb and glucose levels measured by using standard methods for each item in the laboratory, mean while the skeletal age assessment was determined by using FELS method. Results This study included 83 (72.2%) girls and 32 (27.8%) boys. There were 89 (77.4%) subjects with short stature, 74 (64.4%) with delayed bone age, 30 (26.1%) with impaired glucose tolerance, 25 (21.7%) with delayed puberty, 4 (3.5%) with diabetes mellitus (DM), and none with hypothyroidism. Bivariate and multivariate analyses revealed no associations between serum ferritin and short stature, delayed bone age, impaired glucose tolerance, delayed puberty, and DM. Conclusion There is a high prevalence of endocrine disorders in pediatric thalassemia patients, especially short stature and delayed bone age. However, there are no associations between serum ferritin and endocrine disorders in these patients.

Weam Mohamed Ebeid,1 Mahmoud Adel Kenny,2 Tamer AbdelFattah Badran1 1Department of Ophthalmology, Faculty of Medicine, Ain Shams University, Cairo, Egypt; 2Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, EgyptCorrespondence: Weam Mohamed EbeidFaculty of Medicine, Ain Shams University, 78 First District, Fifth Settlement, Cairo, 11861, EgyptTel +20 1003785838Email weam.ebeid@med.asu.edu.egPurpose: To assess dry eye disease (DED) in thalassemic adolescents by evaluating corneal epithelial thickness (CET) and various dry eye clinical tests and correlate them to tissue iron overload.Methods: The study included 120 Beta-thalassemia patients (11 to 18 years) and 120 matched controls. CET maps were captured using anterior segment optical coherence tomography. OSDI questionnaire was completed. Dry eye tests included Schirmer test, tear film breakup time ‎‎ (TBUT), and ocular surface staining (OSS) with fluorescein and lissamine green. We recorded serum ferritin ‎level, and liver iron concentration (LIC) measured by magnetic resonance imaging.Results: Superior and inferior CET was thinner, while map standard deviation (MSD) was higher in thalassemics compared to controls (all P‎< 0.001‎). Thalassemic group also showed higher OSDI scores‎ (P‎< 0.001), shorter TBUT ‎‎(P‎< 0.001‎), and higher OSS grades (P‎< 0.001‎). Both superior and inferior CET was correlated positively with TBUT, and negatively with OSS (all P < 0.001). Serum ferritin and LIC showed negative correlations with CET (superior and inferior, both P< 0.001), positive correlations with MSD, P< 0.001, as well as with TBUT (P< 0.001), OSS ‎(P< 0.001), and OSDI scores (P< 0.001).Conclusion: Thalassemic adolescents had thinner CET with higher thickness’ variability, shorter TBUT and more marked OSS‎ than controls. Correlation of higher serum ferritin and hepatic iron overload with irregular epithelial thinning and more affected dry eye tests results supports our hypothesis that high tissue iron levels could play a pivotal role in DED pathogenesis in thalassemic patients.Keywords: dry eye, thalassemia major, corneal epithelial map, OSDI questionnaire, anterior segment optic coherence tomography

Transfusion-dependent thalassemia patients undergo transfusion immunomodulating effects, which result in a general immune response depression and, consequently, an increase in the frequency of infectious episodes and neoplastic events due to a reduction in phagocytic function. Altered natural killer functions and IL-2-mediated lymphocytic response, defects in antigen presentation due to monocyte--macrophage cells, and decreases in bone marrow precursors and HLA II+ cells all play key roles in immunodepression in thalassemia major. SARS-CoV-2 infection presents marked lymphopenia, occurring in 96.1% of severe cases. COVID-19-related lymphopenia is due to various mechanisms, which lead to an increase in lymphocytic apoptosis. Post-COVID-19 lymphocytic quantitative and functional disorders may compromise immune response and promote the onset of infections via opportunistic pathogens. Herein, we report a case of a thalassemia major patient who developed severe post-COVID-19 lymphocytopenia, which may have facilitated the onset of a severe Klebsiella Pneumoniae infection. [ABSTRACT FROM AUTHOR]

For years, arrhythmias have been well documented in the medical arena as a cardiovascular consequence of iron overload (IO). They are thought to be linked to the accumulation of iron in the myocardium. Iron is the earth's fourth most abundant element and the second most plentiful metal (after aluminium). When it comes to biology, iron fills two roles: it's necessary and it's poisonous. It is necessary as a trace iron element since it is found in hemoproteins such as haemo-globin, but it is poisonous in excess amounts of the ability to produce free radicals, which can harm the biological system. The high prevalence of cardiomyopathy in patients with hemosiderosis, particularly in cases of transfusional iron overload, strongly suggests that iron deposition in the heart plays a key role in the development of heart failure. Thalassemia major, which necessitates blood transfusion as a treatment, absorbs a large amount of iron in the patient's duodenum. Moreover, Iron Overload causes a threat to vital organs such as the liver and, initiates events of the pathologic progression involving apoptosis, fibrosis, and ultimately cardiac dysfunction. Furthermore, we discuss the iron overload issue as it relates to beta-thalassemia major patient blood transfusion treatment, as well as key individuals accountable for iron excess that ultimately leads to cardiomyopathy. [ABSTRACT FROM AUTHOR]

Rationale and Objectives: Despite some investigations about the role of cardiovascular magnetic resonance (CMR) imaging in thalassemia, there are a few studies regarding the feature-tracking (FT). We evaluated the role of T2*, functional, and FT values for the determining of adverse cardiac events (ACE).Methods: One-hundred-fifty-nine patients with thalassemia-major (49.7% female, mean-age = 32 ± 9.8 year) were followed for 8 - 64 (median = 36) months. CMR derived functional, FT, and T2* as well as ACE (heart failure hospitalization, cardiac mortality, pulmonary hypertension, and arrhythmias) were recorded. Also, variables were analyzed for cardiac death prediction separately.Results: Seventeen patients (10.7%) developed ACE. The right-ventricular ejection fraction (RVEF) was the strongest indicator of ACE (OR: 0.85, 95% - CI: 0.790 - 0.918; p < 0.001) and cardiac mortality (OR: 0.88, 95%-CI: 0.811 - 0.973; p = 0.01). RVEF ≤ 39% and ≤ 37% predicted ACE and mortality with sensitivity of 62.5% and 71.43% and specificity of 95.77% and 93.38%, respectively. Additionally, myocardial-T2* was a predictor of mortality (OR: 0.90, 95%-CI: 0.814 - 0.999; p = 0.04). T2* ≤ 10 months predicted death with 85.71% sensitivity and 85.91% specificity. RV global longitudinal strain (GLS) was the strongest strain parameter for the indication of ACE and death (OR: 0.81, 95%-CI: 0.740 - 0.902; p < 0.001 and OR: 0.81, 95%- CI: 0.719 - 0.933; p = 0.003, respectively). RV GLS ≤ 16.43% and ≤ 15.63% determined ACE and death with sensitivity of 52.94% and 71.43% and specificity of 90%, respectively.Conclusion: Our results underscore the role of FT and non-contrast CMR parameters as valuable markers of ACE in thalassemia. [ABSTRACT FROM AUTHOR]

Background: Patients of thalassemia major require frequent hospitalization. Caregivers are more affected than the patient themselves as they better appreciate the magnitude of illness and treatment, resulting in increased risks for psychiatric illness. Aims and Objectives: The purpose of the study was to assess the prevalence of psychiatric morbidity in the caregivers of patients with thalassemia major. The study also examined the quality of life of the caregivers, their coping strategies, and its association with sociodemographic variables. Methodology: A cross-sectional study with 100 caregivers, recruited by convenience sampling technique, attending the thalassemia daycare center, was carried out over 12 months in a tertiary care hospital. They were administered a semistructured proforma along with General Health Questionnaire 12 (GHQ 12), WHO-Quality of Life-BREF (WHO-QOL-BREF), and Coping Inventory for Stressful Situations 21 scale. The GHQ 12 was used for screening and those scoring three or more underwent a clinical psychiatric interview. Those who were diagnosed with psychopathology were ascribed diagnosis as per ICD-10. Descriptive analysis was done. Associations were studied using Fischer's exact test. Comparison of quality of life with blood transfusion variables was done using Mann–Whitney U test. Results: The prevalence of psychiatric morbidity amongst the caregivers was found to be 35% with depressive episode (22%) being the most common. Psychiatric morbidity was found to have a significant association with both, the frequency (P = 0.037) and total number of blood transfusions (P = 0.012). Coping was found to have a strong association with psychiatric morbidity (P = 0.001) and employment (P = 0.009). Conclusions: Caregivers of children with thalassemia major face psychological burden like depression or anxiety, for which treatment is not sought. Improved psychological health of the caregivers will ensure better care of the child and guarantee better adherence to the treatment. [ABSTRACT FROM AUTHOR]

Background: This study aimed to assess cutoff of ferritin for evaluation of osteoporosis in patients with Thalassemia Major (TM). Materials and Methods: This analytic cross-sectional study was conducted in17 Shahrivar children's hospital, Rasht, Iran, from November 2017 to November 2018. The inclusion criteria were indicated as the presence of TM in patients aged 12-19 years old with records of their regular visits. The exclusion criteria were noted as the presence of any chronic bone diseases such as osteomalacia or osteogenesis imperfecta, delayed puberty, hypothyroidism, parathyroid dysfunction, renal failure, liver failure, and growth hormone deficiency. Ferritin level was assessed, and bone densitometry was performed for all patients with TM. Results: In this study, 53 females (54.6%) and 44 males (43.4%) were enrolled. Results showed that 36 (37.1%), 49 (50.5%), and 12 (12.4%) patients had a normal bone density, osteopenia, and osteoporosis, respectively. Comparing these three groups showed that despite higher mean serum level of ferritin in TM patients with osteoporosis than patients with osteopenia and normal bone density, no significant statistical difference was noted in these three groups (P >0.05). Besides, the mean ferritin level in patients with abnormal bone densitometry (osteopenia and osteoporosis) was higher than in patients with normal ones. A significant difference was noted between abnormal and normal densitometries (p=0.03). The Area under the Curve for ferritin was 0.708, and the cutoff point was indicated for ferritin was 2006 ng/ml. Conclusion: Regarding the results, there was a high frequency of osteoporosis and osteopenia in teenagers with TM. As bone density abnormality formation is time-consuming, and prevention is the primary strategy for management, it is highly recommended to assess bone mineral density regularly starting from early childhood. [ABSTRACT FROM AUTHOR]

Introduction We present data on the impact of donor characteristics in a uniform cohort of children who underwent hematopoietic stem cell transplantation (HSCT) for thalassemia major. Patients and methods We performed a retrospective study in children undergoing matched related (MRD) or unrelated (MUD) HSCT from January 2009 to December 2019. Results We analyzed data on 250 patients (age seven months-19 years), MRD n = 187, MUD n = 63. We documented sex mismatch in 44% of HSCTs. The graft rejection rate was 3.7%; all had a sex mismatched HSCT (P value = 0.001). Graft versus host disease (GVHD) was higher when donors were above two years as compared to less than two years (23%vs.6.5%, P value = 0.006), with higher rates of mixed chimerism when donors were < two years at 33.3%vs.8.3% in > two years (P value = 0.0001). Mortality and GVHD were higher in the MUD group as compared to the MRD group (15%vs.5%, P value = 0.009; 42.9%vs. 23.4%, P value = 0.0001 respectively). Overall survival was 92.8% with a median follow up of 5.4 years, and was superior in MRD versus MUD group (9.4 years versus 4.8 years P = 0.008). Conclusion The risk of graft rejection was higher with donor-recipient sex mismatch; while initial mortality and chronic GVHD was higher with MUD HSCT. [ABSTRACT FROM AUTHOR]

Abstract Background The quality of life of B-thalassemia major (β-TM) patients has improved with the use of frequent blood transfusions. However, this leads to chronic iron overload with its sequelae, as prediabetes and diabetes mellitus. This study aimed to assess insulin resistance and glucose abnormalities in a sample of B-thalassemia major patients in Benha, Egypt. Results This case-control study included 40 B-thalassemia major patients on regular blood transfusion and iron chelation. Their ages ranged from 8 to 16 years, and 30 normal age and sex-matched controls. Thorough clinical examination was performed including weight (kg), height (m), body mass index (BMI) (kg/m2), and liver and spleen size. Laboratory investigations were done in the form of complete blood count, liver enzymes, serum ferritin, fasting plasma insulin, and fasting, and 2 h postprandial plasma glucose. Insulin resistance (IR) was calculated using the Homeostasis Model Assessment of insulin resistance (HOMA-IR) index. Insulin resistance was found in 27.5% of thalassemic patients; 18.2% of them had diabetes, 72.7% were prediabetics (with impaired fasting glycemia), and 9.1% had normal fasting and 2 h postprandial plasma glucose level. Insulin resistance increased significantly with increased blood transfusion duration, serum ferritin, liver enzymes, fasting plasma insulin, fasting plasma glucose, and 2 h postprandial plasma glucose (ROC). The curve analysis showed that the duration of blood transfusion, serum ferritin, fasting plasma insulin, fasting, and 2 h postprandial plasma glucose could significantly predict insulin resistance at a certain cut-off point. Conclusion Our data show that HOMA-IR can be used to detect insulin resistance in β-TM patients on long-term blood transfusions, especially patients with high serum ferritin and impaired liver enzymes.

Background and Aim: Serum ferritin in patients with thalassemia major is an indicator of iron overload, which is the main cause of damage to various organs of the body in patients with thalassemia major. The aim of this study was to investigate the relationship between serum ferritin level and renal function in thalassemia major patients. Materials and Methods: This descriptive and cross-sectional study was performed on patients with thalassemia major in Kurdistan province (west region of Iran) in 2019. All patients with thalassemia major were evaluated in terms of having regular blood transfusions for at least 1 year. The obtained data were entered into SPSS 22 software and statistically analyzed after measuring serum ferritin, creatinine and calculating glomerular filtration rate (GFR). Results: In this study, 122 patients were evaluated according to the inclusion and exclusion criteria. 54.1% were male and 45.9% were female. The mean age of patients was 20.28 ± 8.14 years, the mean hemoglobin was 8.95 ± 1.17gr/dl, the mean ferritin was 2812 ± 2134 ng/ml, the mean creatinine was 0.65 ± 0.17 mg/dl and the mean GFR (ml/min) was 122.19 ± 24.13. No significant correlation was found between GFR and serum ferritin (P> 0.05). Conclusion: Due to the lack of correlation between serum ferritin and GFR, it can be concluded that iron overload has no role in possible glomerular damage in thalassemia major patients.

Abstract Background Myocardial iron overload in patients with thalassemia major (TM) is one of the most important complications. The purpose of the study was to identify advanced echocardiography parameters for early identification of myocardial dysfunction during follow-up of patients with TM. Methods Forty TM patients who were 41 ± 5 years old were included in the study and divided into two groups according to cardiac magnetic resonance T2* results (Group 1: Τ2* > 25 ms, Group 2: Τ2* ≤ 25 ms). Liver T2* parameters were also measured. Conventional and deformational echocardiographic parameters were measured at baseline and approximately 2 years later. Results Thirty-two patients had Τ2* = 34 ± 4 ms (Group 1), and 8 had Τ2* = 17 ± 9 ms (Group 2). Blood consumption was 185 ± 60 and 199 ± 37 ml/kg/yr (p = 0.64), and liver T2* was 4 ± 5 and 17 ± 21 ms (p = 0.01) in Groups 1 and 2, respectively. At baseline, Group 1 had better left ventricular global longitudinal strain (GLS) (− 22 ± 3 vs. − 18 ± 5, p = 0.01) and similar left ventricular ejection fraction (LVEF) (62 ± 5% vs. 58 ± 10%, p = 0.086) than Group 2. At the 28 ± 11-month follow-up, LVEF, GLS, and T2* values in Group 1 (63 ± 3%, − 21 ± 3%, 34 ± 4 ms) and Group 2 (56 ± 11%, − 17 ± 4%, 17 ± 9 ms) did not change significantly compared to their corresponding baseline values. In 8 patients from Group 1, a worsening (> 15%) in LS (p = 0.001) was detected during follow-up, with a marginal reduction in LVEF. Conclusions GLS seems to be an efficient echocardiographic parameter for detecting hemochromatosis-related cardiac dysfunction earlier than LVEF. It also seems to be affected by other factors (free radical oxygen, immunogenetic mechanisms or viral infections) in a minority of patients, underscoring the multifactorial etiology of cardiomyopathy.

Background and Aims: The chronic blood disorders could have negative effects on various fields of patient’s quality of life. The aim of this study was to evaluate the relationship between the quality of life and oral health in major thalassemia and hemophilia patients. Materials and Methods: This cross- sectional study was performed in 1398 on 56 hemophilia patients and 35 thalassemia major patients over 15 years of age. All the subjects were examined clinically to determine DMFT and CPITN, then the subjects completed OHIP-14, xerostomia, SF36 questionnaire. Data was analyzed with T-Test, ANOVA and Chi-square using Stata14. Results: TThe mean age of hemophilia and beta-thalassemia patients was 32.3 and 26.2, the mean DMFT index was 8.75 and 7.6, and CPITN index was 2.02 and 2.26, respectively. Analysis of the components of the DMFT index showed a predominance of number of decayed teeth over filled teeth in both groups. According to the CPITN index, 19.6% and 20% of hemophilia and thalassemia patients had gingival healthy, respectively. The mean quality of life total scores in patients with hemophilia and thalassemia was 62.11 and 58.07, respectively. The mean DMFT had a significant negative relationship with the quality of life total scores in both groups (P

Background: Major thalassemia has a significant impact on the personal performance and life of the affected person and leads to reduced quality of life (QoL) of the patient. One of the ways to improve quality of life is to use the Continuous Care Model (CCM). Aim: This study aimed to determine the impact of CCM on the QoL of patients with thalassemia major. Method: A clinical trial was performed with 60 thalassemia patients referring to Aliasghar Hospital in Zahedan, Iran. Eligible candidates were selected by convenience sampling method and randomly assigned to the intervention and control groups (n=30 each). Data collection tools included a demographic form, the quality of life questionnaire the brief version of the World Health Organization's QoL, and a self-control checklist. The intervention was performed in six training sessions three times a week in the presence of the patient and a family member; however, the control group received no intervention. Data analysis was performed in SPSS software (version 21). Results: The mean scores of QoL and its dimensions showed no significant difference between the intervention and control groups before the intervention (P>0.05); nevertheless, a significant difference was observed one and three months after the implementation of the model regarding (P

Background: Current guidelines recommend yearly evaluation of glucose metabolism with oral glucose tolerance test (OGTT) in patients with thalassemia major (TM) from their 10th year onwards. Aims: The aim of the study was to retrospectively evaluate all the OGTT tests performed in a single pediatric center during the last decade and assess the necessity of yearly performed OGTT in patients with TM during the second decade of life. Results: One hundred and seventy tests performed on 39 patients (24 boys) were included in the analysis. Mean age at the time of each OGTT was 14.15 ± 2.79 years. Seventeen tests (10%) in 8 patients (5 boys) were characterized as impaired glucose tolerance (IGT), whereas in 2 tests (1.18%), fasting glucose values were above 200 mg/dL (diabetes mellitus). Acknowledging the fact that there could be sporadic technical errors, especially in fasting glucose abnormal values, we selectively separated patients with either IGT and abnormal HOMA, MATSUDA, or QUICKI indices or persistently impaired fasting glucose or IGT. With these criteria, 7 patients (4 boys) were identified. No significant differences were observed in demographic and anthropometric parameters, ferritin levels, and mean volume of blood transfused in patients with a definite abnormal glucose metabolism. In order to address selection criteria for performing OGTT without missing a single patient with a definite glucose intolerance, these criteria should include (i) a first OGTT test at the initiation of puberty, (ii) OGTT in any patient with a fasting glucose above 100 mg/dL, and (iii) OGTT in any patient with a ΗΟΜΑ-IR index above 1.85 and yearly onwards. By adopting these criteria, total OGTT tests performed could have been reduced from 170 to only 91, translating to a significant reduction of 46.47%. Conclusions: Only a small percentage of young patients with transfusion-dependent b-thalassemia exhibit abnormal glucose metabolism during their second decade of life. By adopting specific selection criteria, one may avoid performing this time- and money-consuming test in a significant proportion of patients, albeit without sacrificing timely detection and intervention. [ABSTRACT FROM AUTHOR]

Introduction: β-Thalassemia is genetic disorder which clinically presents as anaemia due to decreased production of beta-chains of haemoglobin molecule. Literature on oro-facial manifestations, oral health status is sparse and inconclusive in the β-thalassemia major patients (TM). Methods: This cross-sectional study was done to assess oro-facial manifestations of β-Thalassemia. 31 TM patients in the age group of 6-18 years were clinically examined and oro-facial manifestations were recorded. Oral health status including oral hygiene status, dental caries, gingival status of these TM children was compared with 42 healthy children. The mean values were compared using Student's t-test. Treatment needs of both the groups were recorded using WHO oral health assessment form. Results: Lip incompetence (38.75%) and maxillary protrusion (19.35%) were most common oro-facial manifestations of Thalassemia major. Mean OHI-S score for TM and healthy children were comparable 1.73 ± 1.10 and 1.36 ±1.17 respectively (p=.178) but mean GI score for TM was higher than healthy children, 1.42±.39 and .94±.51 respectively (p<.05). Mean DMFT scores for TM and healthy children were 1.5±1.8 and 1.2±2.1 respectively (p=.578). Treatment needs was relatively higher among TM children with 58% of these children requiring one surface filling. Conclusion: Lip incompetence followed by maxillary protrusion were most common oro-facial manifestations of Thalassemia major. There is no significant association between oral hygiene and dental caries with Thalassemia major. However, thalassemia major is associated with gingivitis. Treatment requirement was relatively higher among TM children with one surface filling being the commonest need. [ABSTRACT FROM AUTHOR]

Background: Cranial magnetic resonance imaging (MRI) studies about iron accumulation in children with thalassemia major are quite limited. Aim: This study aimed to detect neurological findings with cranial MRIs in the pediatric patients with thalassemia major who did not develop any neurological complications. Materials and Methods: Pediatric patients with thalassemia major who followed in the Pediatric Hematology Unit between 1 July 2017 and 1 January 2019 were included in the study. The patients underwent cranial MRI scans. Results: A total of 30 patients were included. The median age was 15 (range from 4-18) years old. We found that 7 patients had a splenectomy and 19 of the remaining 23 patients had splenomegaly. In addition, 13 of the patients had hepatomegaly, 10 had skeletal deformities, and 17 had growth retardation. The mean ferritin level was 3772.3 - 2524.8. We detected various pathologies on cranial MRI images of 10 (33.3%) patients. In 3 of these patients, millimeter-sized ischemia-compatible lesions were found in the cerebral white matter, which did not fit any arterial area, and 5 patients had hyperintense lesions in the basal ganglia. Conclusion: Our study is valuable since 1/3 of our pediatric patients with thalassemia major were detected with intracranial pathology. [ABSTRACT FROM AUTHOR]

Objective The development of antibodies against red blood cell (RBC) antigens is one of the most significant adverse effects of chronic blood transfusions. This study aimed to estimate the frequency and causes of RBC immunization in patients with major thalassemia. Methods The findings could help determine the limitation of current practices and help future developments in the selection of suitable blood units for the transfusion support of patients with thalassemia. Results The alloimmunization rate was detected in 52 of 650 patients with major thalassemia (8%). The most frequent antibodies were against K (50%), D (26%), and E (15.4%). Sex, age, and splenectomy did not have any impact on the immunization rate. Immunization was lower in patients who had received only leuko-reduced blood units. Conclusion It is recommended that antibody screening before the first transfusion and extended RBC matching particularly for the most frequent antigens (ABO/Rh/Kell) should be performed for patients with thalassemia. [ABSTRACT FROM AUTHOR]

Monitoring liver and cardiac iron stores by magnetic resonance imaging (MRI) enables identifying patients at risk of organ-specific morbidity and better tailoring of iron chelation therapy in thalassemia. Nevertheless, serum ferritin (SF) remains the only tool for monitoring iron status in most resource-poor regions. In this study, we assessed the impact of using MRI techniques to guide iron chelation therapy on iron overload outcomes in a cohort of 99 patients with thalassemia major (TM, mean age at baselines 20.7 ± 6.9 years) followed from 2006 to 2019. We also assessed the ability of SF trends to predict changes in consecutive liver iron concentration (LIC) and cardiac T2* (cT2*) measurements. The most commonly used chelator was deferasirox at baseline (65%) and final (72%) assessments. Overall, patients with safe LIC values (< 7 mg/g dw) increased from 57 to 77%, and safe cT2* values (> 20 ms) increased from 72 to 86%. We obtained the most significant improvement in patients with severe and moderate liver (p = 0.006 and p < 0.001) and cardiac (p < 0.0013 and p < 0.0001) iron overload at baseline. SF trends were in the same direction in 64% of changes in LIC, but only 42% of changes were proportional. Most of the changes in SF (64%) and LIC (61%) could not predict changes in cT2*. Moreover, downward trends in SF and LIC were associated with worsening cardiac iron in 29% and 23.5% of consecutive cT2* measurements. Liver and cardiac MRI-driven oral iron chelation improved the iron status of subjects with TM and demonstrated the importance of using validated MRI techniques in critical clinical decisions. [ABSTRACT FROM AUTHOR]

Significant advances in supportive care for patients with transfusion-dependent thalassemia major (TDT) have improved patients' life expectancy. However, transfusion-associated iron overload remains a significant barrier to long-term survival with good quality of life. Today, allogeneic hematopoietic stem cell transplantation (HSCT) is the current curative standard of care. Alongside selection of the best available donor, an optimized conditioning regimen is crucial to maximize outcomes for patients with TDT undergoing HSCT. The aim of this retrospective analysis was to investigate the role of busulfan–fludarabine-based and treosulfan–fludarabine-based conditioning in TDT patients undergoing HSCT. We included 772 patients registered in the European Society for Blood and Marrow Transplantation (EBMT) database who underwent first HSCT between 2010 and 2018. Four hundred ten patients received busulfan–fludarabine-based conditioning (median age 8.6 years) and 362 patients received treosulfan–fludarabine-based conditioning (median age 5.7 years). Patient outcomes were retrospectively compared by conditioning regimen. Two-year overall survival was 92.7% (95% confidence interval: 89.3–95.1%) after busulfan–fludarabine-based conditioning and 94.7% (95% confidence interval: 91.7–96.6%) after treosulfan–fludarabine-based conditioning. There was a very low incidence of second HSCT overall. The main causes of death were infections, graft-versus-host disease, and rejection. In conclusion, use of busulfan or treosulfan as the backbone of myeloablative conditioning for patients with TDT undergoing HSCT resulted in comparably high cure rates. Long-term follow-up studies are warranted to address the important issues of organ toxicities and gonadal function. [ABSTRACT FROM AUTHOR]

Cardiac complications such as heart failure and arrhythmias caused by "iron-induced" cardiomyopathy are considered as the primary cause of death in the patients with β-thalassemia major. The aim of this study was to evaluate electrocardiography, echocardiography according cardiac T2* and ferritin findings of patients followed-up for β-thalassemia major, and to investigate the importance of these findings for early detection of cardiac complications. The study included 41 patients and 25 healthy individuals with matched age and gender. The cardiac T2* results revealed a cardiac iron load below 20 ms in 12 (29.27%) patients, and above 20 ms in 29 (70.73%) patients. All electrocardiography parameters significantly increased in the patient group when compared to the control group (p < 0.05). All parameters except P wave segment in electrocardiography and T peak-end/QT ratio were significantly higher in the group with cardiac T2* < 20 ms than the group with cardiac T2* > 20 ms (p < 0.05). Intraventricular septum thickness, left ventricular posterior wall thickness, left ventricular mass and left ventricular mass index detected by echocardiography were significantly higher in the group with T2* < 20 ms (p < 0.05). Electrocardiography, echocardiography, cardiac T2* and ferritin findings should be carefully evaluated in these patients in order to detect early signs of cardiac complications. [ABSTRACT FROM AUTHOR]

Background: In recent decades, reducing the size of the drug delivery systems along with precise control of the amount of drug pumped, has attracted the attention of many researchers. Objectives: The slow subcutaneous infusion of the deferoxamine in thalassemia major patients during day is of vital importance either for the drug effectiveness. However, this is difficult to achieve due to the large size of the conventional infusion pumps and their high weight. Therefore, sizeandweight reduction of the infusionpumpsare very important issues thatmustbe well addressed. Methods: Abiomedicalmicropumpfor drug solution infusion tohumanbody based onthe magnetohydrodynamic(MHD)concept is and designed, and its performance experimentally is investigated in this research. The key challenge in the fabrication of the micropump is its size, weight, bubble generation, and high operating voltage. Results: The present design is well responded to these problems. The final design operates with a 1.2 v without any bubble generation, while its size and weight are 20 × 40 × 50 mm3 and 90 grams, respectively. The size of the micropump is about 1/3 size of conventional micropump, while its weight is half of them. Conclusions: Therefore, the newly designed micropump has the ability to inject the drug solution to thalassemia major patients with a sufficient infusion rate during the day without disturbing them, so it can increase their quality of life and increase their life expectancy. [ABSTRACT FROM AUTHOR]

Due to the advances in the treatment of patients with beta thalassemia major, their lifespan has increased, and hence, they are exposed to various morbidities including malignancies. In this study, a 4-year-old male child with beta thalassemia major who received regular blood transfusions every four weeks at thalassemia center is described. As he complained of abdominal pain, abdominal ultrasound was performed. The results showed ileocolic intussusception. He underwent surgery by a general surgeon, but there was no follow-up and the patient did not revisit the surgeon. Two months later, a pediatric hematologist-oncologist visited the patient who exhibited symptoms of fever, pallor, weakness, abdominal pain, and abdominal distension. Bone marrow aspiration was done under local anesthesia because the patient suffered from bone pain, anemia, and thrombocytopenia. It was found that bone marrow was infiltrated with more than 90% vacuolated lymphoblast, which confirmed Burkitt leukemia (ALL L3). Flow cytometry analysis also confirmed this diagnosis. [ABSTRACT FROM AUTHOR]

OBJECTIVES: Thalassemia, one of the most widespread autosomal recessive disorders, is characterized by anomalies in the synthesis of hemoglobin beta chains and is frequently coupled with variable craniofacial characteristics. Thalassemic patients suffer from severe anemia, which triggers several defense mechanisms in the body, such as bone marrow expansion, which forces the bones to expand, resulting in craniofacial bone deformities. This study aims to assess and compare the orofacial dimensions of β-thalassemia patients with those of a control group across similar ages and gender. MATERIALS AND METHODS: Three hundred Iraqi individuals agreed to participate in this study (150 non-thalassemic and 150 thalassemic patients with an equal distribution of genders). A well-trained researcher carried out five anthropometric measurements by using an electronic digital caliper. Gender and group differences were tested using an independent sample t test. RESULTS: Mouth width showed clinical and statistically significant group differences among all measurements in the study group. CONCLUSIONS: All measurements except mouth width showed nonsignificant clinical group differences. [ABSTRACT FROM AUTHOR]

Background: Invasive medical procedures and their complications of Thalassemia Major still affect the quality of life of all patients and their caregivers. Aim: This study evaluates the experiences of parents of children with Thalassemia Major. Method: The qualitative phenomenological method was used to determine the parents' experiences. The study sample included 14 parents who met the inclusion criteria. Individual interviews, an introductory information form and a semi-structured interview form were used for data collection. The data were analyzed with Colaizzi's seven-step method. Results: Four themes of the interviews were established: unprecedented psychosocial distress, social support, financial burden and concern about children in the future Parents stated that they experienced shock, sadness, fear, stress, depression, death anxiety, fatigue and burnout. Especially with the COVID-19 epidemic in our country, parents stated that their lives became more difficult and their concerns about their children increased. Conclusions: Healthcare staffs need to understand parents' psychosocial distress and coping strategies to provide support and guidance from the outset of treatment and care. It is recommended that interventions be planned and implemented in a way that maximizes the quality of life of children and families. [ABSTRACT FROM AUTHOR]

Background: Pakistan faces a considerable burden of disease with regard to inherited blood disorder, i.e., Thalassemia Major. Its economic implications are least studied before, particularly when it comes to ascertaining a household's out of pocket expense on treating the disease. This study was carried out to understand the current estimate of Out-of-pocket expenditure (OOP) expense and its implications on the household and livelihood, while seeking treatment for a child suffering from thalassemia. Methods: It was a descriptive cross-sectional study of 3 months' duration. Patients were selected from Fauji Foundation Hospital (FFH) and Pakistan Institute of Medical Sciences (PIMS), through. The descriptive quantitative analysis and inferential analysis was carried through purposive sampling. Results: Treatment expense of entitled patients from FFH hospital (a public hospital which offers entitlement to the families of retired army personnel) was compared with that of non-entitled patients coming to PIMS (a public sector general hospital). Total expense incurred on treatment by the end of the month was PKR. 5000-10,000 (USD31-62) in FFH, while at PIMS, the total expense incurred on treatment by the end of the month was around PKR 80,000 (USD500). Around 37% families having an average monthly income of PkRs25000 (USD150) only, sold their livelihoods, 31% compromised on their children's education expenses and 23% percent curtailed the health expenses of the other children. Conclusion: The out-of-pocket expenditure on treating TM is quite high and compels the families to borrow money and sell or mortgage their property, which puts a great deal monetary pressure given their socio-economic status. A practical solution would be to cover these families under the health safety net supported by the government. [ABSTRACT FROM AUTHOR]

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Abstract Extramedullary hematopoiesis is a normal compensatory reaction that can affect the epidural space, leading to spinal cord compression syndrome. MRI is the imaging method of choice for diagnosis and monitoring. Treatment is still controversial.

Introduction: Chronic diseases, including Thalassemia, have a profound effect on the functioning and overall life of the individual, especially at an early age. Given the low quality of life of adolescents with thalassemia and the importance of their function in society, this study aimed to determine the impact of applying life skills on quality of life in adolescents in Ahwaz in 2018. Methods: This quasi-experimental study was performed on 84 adolescents with thalassemia major referred to Thalassemia Clinic of Baqa'i Hospital, Ahwaz city, Iran. The study was conducted from 2018 to 2020. Adolescents were randomly divided into intervention and control groups. Both groups completed the demographic information questionnaire and the Kidney Screening Questionnaire for Quality of Life of the Teenager 52. Then the experimental group received the educational content (holding a class, Q&A and booklet) for 6 sessions of 2-hour. The control group did not receive any training. Data were analyzed by SPSS 22 and Chi-square, independent t-test, and paired t-test. Results: The results showed that the difference between the mean of quality of life in the two groups of control and intervention was not significant (P

Background: Thalassemia is one of the main chronic hereditary diseases characterized by severe symptoms of anemia. Also, it has negative effects on patients’ mental health. However, few researches have studied the different psychiatric aspects of this disease and the psychological and social needs of thalassemic patients. Objectives: The aim of the present study was to investigate the effect of stress management and resilience training on psychological well-being of thalassemic patients in Kerman. Methods: This research was a quasi-experimental study using pre-test and post-test model with control group. A sample of 30 patients with thalassemia major, who referred to the Samen al-Hojaj Charity Foundation, was selected through convenience sampling and randomly divided into experimental and control groups (each group included 15 patients). After completing the pre-test, the experimental group received 10 sessions of stress management training. The instrument of the study was Reef Psychological Well-being Questionnaire (RPWB). Data were analyzed by SPSS software using covariance analysis. Results: The results indicated that resilience and stress management training have positive effects on psychological well-being and its subscales including self-acceptance, positive relationship with others, autonomy, personal development and purposeful life of thalassemia major patients (p0.05). Conclusion: According to the results, regarding the effectiveness of resilience and stress management on the psychological well-being of thalassemic patients, the present study could introduce effective solution for development of psychological well-being and improvement of overall mental health of patients with thalassemia major

Roya Shaykhbaygloo,1 Alireza Moradabadi,2 Hassan Taherahmadi,1 Mohammad Rafiei,3 Fariborz Lotfi,1 Aziz Eghbali1 1Pediatric Department, Arak University of Medical Science, Arak, Iran; 2Hematology Department, Arak University of Medical Science, Arak, Iran; 3Biostatistics and Epidemiology Department, Arak University of Medical Science, Arak, IranCorrespondence: Aziz EghbaliPediatric Department, Arak University of Medical Science, Basij Square, Arak, IranTel +989 187982460Email aziz_eghbali@yahoo.comIntroduction: Thalassemia is a hypochromic microcytic anemia, which is characterized by congenital disorders. In thalassemia patients, bone diseases are one of the causes of mortality. Our goal was to investigate the association between vitamin D deficiency and increased iron uptake by cardiac myocytes and hepatocytes.Materials and Methods: Forty patients with thalassemia major were studied in Amir Kabir Hospital, Arak, Iran. The information obtained through clinical examination. Serum ferritin level was determined by ELISA and T2*MRI performed for measuring iron content in the heart and the liver.Results: The average age of the patients was 23.8 ± 10.7 years. The mean T2*MRI values were 23.7 ± 7. The vitamin D3 level in 33 patients (82.5% cases) was less than 20 ng/dl, 2 patients (5%) in the range of 20– 30 ng/dl, and the others had above 30 ng/dl. Correlation between vitamin D and age was 0.611. Correlation coefficient between heart and liver T2*MRI with ferritin level in patients was 0.437 and 0.335, respectively.Conclusion: Due to significant associations, the periodic measurement of vitamin D, as well as PTH, is recommended for patients with thalassemia major.Keywords: thalassemia major, T2*MRI, cardiac and liver iron level, vitamin D3

Background Beta-thalassemia is one of the common genetic disorders in our community. Therefore, it is deemed necessary to study and probe it to encompass all aspects of this disorder. Aim The aim of this study was to determine the adherence of management of β-thalassemia major in Minia General Hospital to an established Standard for the Clinical Care of Children with Thalassemia in the UK. Patients and methods This study included 100 children with β-thalassemia major who were receiving regular blood transfusion; data of the patients were collected and analyzed for audit against established Standards for the Clinical Care of Children with Thalassemia in the UK; values were expressed in terms of percentage. Results The diagnosis of β-thalassemia major in our study was made mainly on the basis of the clinical background confirmed by complete blood count, hemoglobin electrophoresis, and serum ferritin level; the frequency of investigations in our study showed that abdominal ultrasound was performed regularly in most of our patients (93%), followed by liver function (74%), serum ferritin (65%), hepatitis marker (57%), echocardiography (47%), and assessments of weight and height − sitting and standing (43%), follicle-stimulating hormone, luteinizing hormone (7%), thyroid-stimulating hormone, triiodothyronine, thyroxine (7%), fundus examination (7%), audiometry (3%), oral glucose tolerance test (3%), vitamin D level (3%), and DEXA scan (1%); the assessment of puberty was not performed. The most common complication in our study was splenomegaly (80%), followed by bone deformities (76%), slowed growth rates (69%), and infection (47%), followed by bone osteoporosis (27%), heart problems (24%), chronic hepatitis, or liver fibrosis (19%). Iron-chelation therapy was used by 53% of our patients. Deferasirox is the main line (38%); hydroxyurea was used by 41% of our patients. Conclusion As a conclusion, we found that lines of management of β-thalassemia major in Minia General Hospital were not enough and not performed systematically in comparison with Standards for the Clinical Care of Children with Thalassemia in the UK.

Introduction: Iatrogenic factor is one of the recognized causes for premature ovarian insufficiency. The aim of this case report was to present a rare case with premature ovarian insufficiency and 46, XY karyotype after bone marrow transplant (BMT) for thalassaemia major at childhood. We also reviewed some relevant literature in this report.Case Presentation: A 17-year-old girl was presented with primary amenorrhea and premature ovarian insufficiency after receiving chemotherapy and BMT from her brother due to thalassaemia major at childhood. She had poor secondary sex characteristics, assessed as stage I for the development of breasts and external genitalia based on the Tanner scale. Transabdominal ultrasound showed small uterus with visible endometrial lining and small ovaries. Laboratory data showed hypergonadotropic hypogonadism profile with low level of estrogen and high level of follicular-stimulating hormone (FSH). Patient's peripheral lymphocytes karyotype was 46, XY.Conclusions: This case was diagnosed as a chemotherapy induced premature ovarian insufficiency. Patient's peripheral lymphocytes karyotype (46, XY) after she received BMT from a male donor was a misleading finding, and the case could be easily misdiagnosed as Swyer syndrome. A correct diagnosis in such cases should depend not only on the recent clinical findings, but also on the detailed medical history. To prevent premature ovarian insufficiency in similar cases, fertility preservation should be offered to girls before they receive chemotherapy, total body irradiation and BMT.

Thalassemia is an inherited disease that causes the production of damaged hemoglobin chains. Patients are diagnosed with thalassemia major due to major clinical signs and deep anemia. This study aimed to examine the major thalassemia and psychosocial aspect of it, which is such an important issue, to serve as a roadmap for better handling these patients and to contribute to the literature. The method used in this study was narrative review. A literature review was conducted by searching the materials published in databases including Web of Science, PubMed, Scopus, and Google Scholar search engine from 2001 to 2020. Besides WHO website was searched. Thalassemia major damages the heart, liver, lungs and endocrine organs due to anemia and iron accumulation. In addition, the patient may experience mental and social problems due to the congenital nature of the disease and its lifelong duration. The psychosocial problems and treatment burdens of thalassemia patients are very high. There are many studies about the prevalence and physical consequences of thalassemia. However, there are not enough articles and researches describing the psychosocial effects of thalassemia on patients and what can be done about these effects. For this reason, this paper focuses on the process of thalassemia and the psychosocial problems it creates to contribute to the literature and to be a roadmap for better handling these patients.

Background: Thalassemia patients are more likely to suffer from anxiety and depression and frustration can significantly affect social relationships. Purpose: The main objective of the present study was to survey the relationship between frustration and social relationship in patients with thalassemia major. Methods: 100 patients diagnosed with thalassemia major were selected based on a stratified random sampling method in Mofid Children’s Hospital, Tehran, Iran. The Beck Hopelessness Scale (BHS) questionnaire was used to measure three dimensions of frustration. Moreover, the Quality of Relationship Inventory (QRI) questionnaire was employed to examine the three criteria, i.e., the perceived social support, interpersonal conflicts, and depth of relationships. All data were analyzed using analytical statistics (t-test, Kolmogorov-Smirnov test (K-S test), one-way analysis of variance (ANOVA), and Pearson correlation coefficient (r)). Results: The results obtained from the t-test showed that social relations were not significantly different between the two male and female groups (P = 0.764). Therefore, no meaningful relationship was found between gender and the quality of social relations. Moreover, the frustration had no effect on the significant relationship among male and female patients with thalassemia major (P = 0.105). The results obtained from the Pearson correlation test showed that at the statistical level, the P-value was equal to 0.001, proving the significance of the relationship. Therefore, our analyses revealed that as the level of frustration increased, the quality of social relations decreased, and vice versa. Conclusion: The results indicated an inverse relationship between frustration and the quality of social relations.

We assessed the prognostic value of multiparametric cardiovascular magnetic resonance (CMR) in predicting death from heart failure (HF) in thalassemia major (TM). We considered 1398 white TM patients (30.8 ± 8.9 years, 725 women) without a history of HF at baseline CMR, which was performed within the Myocardial Iron Overload in Thalassemia (MIOT) network. Iron overload was quantified by using the T2* technique, and biventricular function was determined with cine images. Late gadolinium enhancement (LGE) images were acquired to detect replacement myocardial fibrosis. During a mean follow-up of 4.83 ± 2.05 years, 49.1% of the patients changed the chelation regimen at least once; these patients were more likely to have significant myocardial iron overload (MIO) than patients who maintained the same regimen. Twelve (1.0%) patients died from HF. Significant MIO, ventricular dysfunction, ventricular dilation, and replacement myocardial fibrosis were identified as significant univariate prognosticators. Based on the presence of the four CMR predictors of HF death, patients were divided into three subgroups. Patients having all four markers had a significantly higher risk of dying for HF than patients without markers (hazard ratio (HR) = 89.93; 95%CI = 5.62–1439.46; p = 0.001) or with one to three CMR markers (HR = 12.69; 95%CI = 1.60–100.36; p = 0.016). Our findings promote the exploitation of the multiparametric potential of CMR, including LGE, for better risk stratification for TM patients.

Cohen syndrome (CS) is a rare autosomal recessive disorder marked by developmental delays, distinct facial features, and a variety of systemic manifestations. We present a case of a 28-year-old male previously misdiagnosed with Prader-Willi syndrome who exhibited recurrent generalized weakness, fever, fatigue, and significant hemoglobin drops requiring multiple blood transfusions due to thalassemia major. The patient displayed characteristic CS features, including developmental delays, distinct facial characteristics, morbid obesity, and heterochromia iridis. Severe gastrointestinal bleeding led to a diagnosis of ulcerative colitis (UC) via colonoscopy. Management included blood transfusions, hydrocortisone, mesalamine, and azathioprine, resulting in stabilized UC and improved overall health. CS presents with a spectrum of clinical features that overlap with other syndromic conditions, necessitating careful differential diagnosis. Early diagnosis and supportive care significantly improve quality of life and help manage complications effectively., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Milhem et al.)

Background and Aims : Thalassemia is a common hereditary disease which is one of the health problems in Iran due to its high prevalence. The aim of this study was to evaluate the dental health and treatment needs of patients with major thalassemia in Bandar Abbas. Materials and Methods: This descriptive cross-sectional study was performed on 80 thalassemic patients referred to Bandar Abbas health centers. The control group consisted of 80 healthy individuals who were selected by age and sex similar to the patient group. The age range of participants was between 4 and 22 years old with an average of 12.36 ± 14.8 years. The demographic data were recorded in the questionnaire and then the caries and dental needs were determined by clinical examination. Data were analyzed by descriptive and analytical statistics using the SPSS-21 software. Results: The mean DMFT of permanent teeth in thalassemia and control group was 5.04 ± 5.07 and 2.9 ± 3.57 respectively, which according to Mann-Whitney test, there was a significant difference between the two groups (P value = 0.015). This rate in deciduous teeth for thalassemia and control groups was 5.59 ±3.36 and 4.05± 2.99, respectively (P value = 0.044). In thalassemia patients, the need for restoration (P value = 0.027) and root canal treatment (P value = 0.013) were higher. There was also a significant difference between DMFT and frequency of tooth brushing in both groups of thalassemia and control group (<0.0001). Conclusion: Due to the higher level of DMFT in patients with thalassemia major, health education, preventive measures and dental treatments are necessary for these patients. [ABSTRACT FROM AUTHOR]

Growth hormone deficiency, endocrine abnormalities and growth retardation are common in patients with hereditary hemoglobinopathies like Beta-thalassemia major, one of the main causes is dysfunction of the hypothalamic-pituitary axis, this complication appears related to quantitative change of hemoglobin in these patients and on the other hand from basic treatments of this diseases itself which include blood transfusion or chelating therapy. Aims of the study, we aimed in this study to evaluate the prevalence of growth hormone deficiency in short stature Beta-thalassemia major patients, and the prevalence of thyroid disorders, heart failure and splenectomy in Basrah governorate. A cross-sectional study performed in Al-Faiha’a Specialized Diabetes, Endocrine, and Metabolism Center (FDEMC) in Al-Faiha’a teaching Hospital, in Basrah Southern Iraq between August 2020 and April 2021. The total number of patients was one hundred and fifteen patients who are regular attendants to FDEMC are involved in this study. Clinical data were collected include age, sex, BMI, and history of splenectomy, and heart failure. Morning venous blood samples were withdrawn from all participants. Growth hormone (GH), thyrotropin (TSH), free thyroxine (FT4), triiodothyronine (T3), thyroxine (T4) and ferritin were estimated by electrochemiluminescence immunoassay “ECLIA” technique while hemoglobin (Hb) concentration was estimated by cyanide-free sodium lauryl sulphate (SLS) method. The prevalence of growth hormone deficiency was 77/115 (66.9%), HB and ferritin were no statistically different between GH deficiency and GH normal patients. Prevalence of hypothyroidism was 11/115 (9.5 %) of total patients, total T3 and T4 were in a normal range. Prevalence of splenectomy and heart failure were (30.4%) (3.4%), respectively. In conclusion, GH deficiency is a common complication in b-thalassemia major. [ABSTRACT FROM AUTHOR]

The risk for pulmonary hypertension (PH) in thalassemia major (TM) patients remains controversial. We report echocardiography results from 60 TM patients: we evaluated the association between tricuspid regurgitation velocities (TRV), iron stores, and serologic markers of hemolysis and arginine dysregulation. Patients were enrolled from August 2004 until May 2009. All parameters were inversely weighted by the number of exams. TRV was comparable between sexes and it was uncorrelated with age. At the first exam, TR velocities at the upper limits of normal (2.5-2.7m/s) were observed in 8 patients. An abnormal TRV (2.9m/s) was found in 1 patient. Borderline increases in TRV were associated with a reduced global arginine bioavailability (R=-0.399 P=0.005), increased anemia (hemoglobin: R=-0.219 P=0.0461), cardiac index (R=0.223 P=0.0481), and diastolic dysfunction (E/A: R=0.289 P=0.0088; E/E': R=0.223 P=0.0453), but not hemolysis, iron overload and systolic function evaluated by Magnetic Resonance Imaging, and splenectomy. Well-transfused TM patients have a lower risk for PH than thalassemia intermedia patients. However, they do have vascular stressors that raise their lifetime PH risk to levels higher than for the general population. Consequently, we support recommendations for annual echocardiographic screening and cardiac catheterization for persistent TRV above 3m/s.

Background: Vitamin C is a well-known powerful water soluble antioxidant and very powerful iron absorption enhancer. It was used for a long period in the management of thalassemia major (TM) patients hoping to decrease the oxidative stress initiated by iron overload resulted from hemolysis of erythrocytes and frequent blood transfusions (BT). Iron overload from BTs may be exacerbated in patients due to increased absorption of iron from the diet in response to ineffective erythropoiesis or vitamin C supplementation. Aim: To evaluate the impact of vitamin C supplementation on the iron overload and oxidative stress in beta thalassemia major patients Methods: Fifty five children were investigated in this study. Thirty two of them were patients with TM on frequent BTs and oral chelating drug (deferasirox), they were diagnosed by hemoglobin electrophoresis with a mean age of 9±4.3 y. Patients were attendees of the Blood Disease and Thalassemia center in Maysan Province-Iraq in the period between November 2013 and November 2014. Twenty three apparently healthy children with a mean age of 8±3.2 y were included as a control group. Patients were subjected to vitamin C supplementation (200mg/day) for 2 months. Serum; vitamin C, iron, malondialdehyde (MDA), ferritin and UIBC and complete blood count were determined. Results: There were significant increases of serum iron (P

Background: Thalassemia major is an important health problem in Mediterranean countries, placing a tremendous emotional, psychological, and economic burden. This study aimed to evaluate the effective factors on long- and short-term survival of thalassemia major patients using mixture and non-mixture cure survival models based on generalized-Gompertz distribution. The generalized-Gompertz distribution has flexible curve of failure rate that may be appropriate for different situation of survival analysis. Methods: In this retrospective cohort study, medical records of 300 thalassemia major patients referring to Zafar's thalassemia clinic during 1994-2017 in Tehran, Iran were reviewed. Mixture and non-mixture cure survival models based on Gompertz and generalized-Gompertz distributions were performed to investigate the survival of thalassemia major patients and the influential factors in their survival and longevity. The Akaike Information Criteria was used to compare the models. Analysis was performed using SAS software version 9.4. Results: The mean survival time was 32.21 ± 7.47years. The censorship rate was 78.3%. In both of the mixture and non-mixture cure models, generalized Gompertz distribution, as compared to the standard Gompertz had the lower Akaike (AIC) criteria that was 200.8. Based on this model, iron deposition in liver at mild and moderate levels had a significant effect on the long-term survival of these patients. Conclusion: Based on Akaike Information criteria, considering the generalized Gompertz mixture cure model has the best fit for the data of thalassemia major disease in which patients are long-term survivors. In order to analyze the survival of patients with thalassemia major, since iron deposition in liver at mild and moderate levels had a significant effect on the long-term survival of these patients; it is recommended to regular iron chelation therapy for extra iron extraction.

We herein reported the course of Coronavirus diasease-19 (COVID-19) in a 21-year-old patient with thalassemia majo rdisease. The patient who underwent haematopoietic stem cell transplantation in 2013 and developed alloimmunization, presented with high fever and weakness. His parents have been recently diagnosed with COVID-19. COVID-19 diagnosis was confirmed by real time-polymerase chain reaction (RT-PCR) method in the nasopharyngeal swab sample of the patient while his thorax computed tomography was not found in favor of pneumonia. The patient was treated with hydroxychloroquine 2x200mg and Favipravir 3x600mg. The temperature fell with in three days. The clinical condition of the patient improved rapidly. On the 20th day, he did not have any symptom with a recovery of anemia and lymphopenia, but the RT-PCR result was stil positive. In this case report, we wanted to point out that the course of the COVID-19 is unexpectedly mild in such a patient with thalassemia major.