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Background: Cardiac, hepatic and pancreatic T2* measured by magnetic resonance imaging (MRI) has been proven to be an accurate and non-invasive method for measuring iron overload in iron overload conditions. There is accumulating evidence that pancreatic iron can predict cardiac iron in young children because the pancreas loads earlier than the heart. The aim of our study was to assess the relationships between pancreatic T2* values and pancreatic iron loading with cardiac dysfunctions and liver and cardiac iron among patients with β-thalassaemia major (βTM) and sickle cell disease (SCD). Methods: 40 βTM and 20 transfusion-dependant SCD patients were included along with 60 healthy age and sex-matched controls. Echocardiography and Tissue Doppler Imaging were performed for all subjects as well as the control group. Hepatic, cardiac and pancreatic iron overload in cases were assessed by MRI T2*. Results: The mean age of our patients was 13.7 years with mean frequency of transfusion/year 12. Mean cardiac T2* was 32.9 ms and mean myocardial iron concentration was 0.7 mg/g; One patient had cardiac iron overload of moderate severity. Mean pancreatic T2* was 22.3 ms with 20 patients having mild pancreatic iron overload. Pancreatic T2* correlated positively peak late diastolic velocity at septal mitral annulus (r=0.269, p=0.038), peak early diastolic velocity at tricuspid annulus (r=0.430, p=0.001) and mitral annular plane systolic excursion (r=0.326, p=0.01); and negatively with end systolic pulmonary artery pressure (r=-0.343, p=0.007) and main pulmonary artery diameter (MPA) (r=-0.259, p=0.046). We couldn’t test the predictability of pancreatic T2* in relation to cardiac T2* as only one patient had cardiac T2* Conclusion: There was a relationship between pancreatic iron siderosis with cardiac dysfunction in multi-transfused patients with βTM and SCD. No direct relation between pancreatic iron and cardiac siderosis was detected.

Growth disorders in short stature are often found in patients with β-thalassemia major. It is caused by several factors such as hypoxia, hemosiderosis, deficiency of nutritional intake, and micronutrient. Disorder in growth will affect the patient's quality of life. This study aims to determine the prevalence of growth disorders and analyze the factors associated with thalassemia child growth disorders. This study used an observational analytic study with a cross-sectional design on 167 patients with β-thalassemia major at the Palang Merah Indonesia Hospital, Bogor, West Java, in October–December 2018. Data was collected using a transfusion compliance questionnaire and the Morisky Medication Adherence Scale (MMAS-8), while growth was assessed using the CDC 2000 height/age curve. Data analysis used SPSS for Windows version 21.0. Of 167 subjects, 86 subjects (51.5%) were not adherent to transfusion, 97 subjects (58.1%) had low consumption of chelation iron, and 146 subjects (87.4%) had growth problems. The results of bivariate data analysis using the chi-square test for transfusion compliance and parental education on growth obtained p=0.000 and p=0.032. Likewise, for compliance with iron chelation consumption and parents' income to growth, the p value=0.000 was obtained. It was concluded that the prevalence of growth disorders was 87.4%, and there was a relationship between transfusion compliance, parental education level, parents' income, and compliance with iron chelation consumption on growth disorders in thalassemia children. FAKTOR-FAKTOR YANG BERHUBUNGAN DENGAN GANGGUAN PERTUMBUHAN PADA ANAK TALASEMIA MAYOR Gangguan pertumbuhan berupa perawakan pendek sering ditemukan pada penderita talasemia β mayor. Hal ini disebabkan oleh beberapa faktor seperti hipoksia, hemosiderosis, kekurangan asupan nutrisi, dan mikonutrien. Gangguan pertumbuhan akan memengaruhi kualitas hidup pasien. Penelitian ini bertujuan mengetahui prevalensi gangguan tumbuh kembang dan menganalisis faktor-faktor yang berhubungan dengan gangguan tumbuh kembang anak talasemia. Penelitian ini menggunakan jenis penelitian observasional analitik dengan desain cross-sectional pada 167 pasien talasemia β mayor di RS Palang Merah Indonesia, Bogor, Jawa Barat pada bulan Oktober–Desember 2018. Pengumpulan data dilakukan dengan menggunakan kuesioner kepatuhan transfusi dan Morisky Medication Adherence Scale (MMAS-8), sedangkan pertumbuhan dinilai menggunakan kurva tinggi/usia CDC 2000. Analisis data menggunakan SPSS for Windows versi 21.0. Dari 167 subjek, 86 subjek (51,5%) tidak patuh pada transfusi, 97 subjek (58,1%) memiliki konsumsi kelasi besi rendah, dan 146 subjek (87,4%) mengalami gangguan pertumbuhan. Hasil analisis data bivariat menggunakan uji chi-square untuk kepatuhan transfusi dan pendidikan orangtua tentang pertumbuhan diperoleh p=0,000 dan p=0,032. Begitu pula untuk kepatuhan konsumsi kelasi besi dan pendapatan orangtua terhadap pertumbuhan diperoleh p=0,000. Disimpulkan bahwa prevalensi gangguan tumbuh kembang sebesar 87,4% dan terdapat hubungan kepatuhan transfusi, tingkat pendidikan orangtua, pendapatan orangtua, dan kepatuhan konsumsi kelasi besi dengan gangguan tumbuh kembang anak talasemia.

BACKGROUND Basic knowledge of sexual and reproductive health is important to be introduced during the premarital period, to reduce high-risk sexual behavior among adolescents, as well as to increase the correct attitude in their future marriage. This study explored the knowledge of HIV/AIDS, sexually transmitted diseases (STDs) and anemia among unmarried adolescents. METHODS This was a cross-sectional analytical study on secondary data from the Indonesian Demographic and Health Population Survey 2017, initially conducted by the National Population and Family Planning Board (BKKBN). Knowledge of HIV/AIDS, STDs and anemia among unmarried adolescents aged 15-24 years in West Java Province and Jakarta, the capital city of Indonesia, was compared and analyzed using the chi-square test. RESULTS In total, 5,389 weighted data were retrieved. In general, adolescents in Jakarta had better knowledge of all diseases compared to those in West Java (p90%) had their own mobile phone with almost daily internet access, however most of their information sources on health education were from their school period. CONCLUSION Premarital education in schools is imperative to enhance the knowledge of STDs and anemia. Moreover, poor knowledge of anemia is a challenge for introducing the topic of thalassemia major, an inherited autosomal recessive type of anemia due to hemoglobinopathy. Since Indonesia is harboring 6-10% of thalassemia carriers, integrative premarital education is needed for better family planning.

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. [ABSTRACT FROM AUTHOR]

Beta thalassemias are a group of inherited blood diseases, widely spread all over the world. Homozygous beta-thalassemia is characterized by lifelong transfusion-dependent anaemia with severe organ damage due to iron overload. With optimal transfusion and chelated regimens, the quality of life of these patients is constantly increasing, and life expectancy already exceeds the age of 40 years. Cardiovascular complications remain the leading cause of death in up to 70 % of the cases, despite the significant progress in the treatment and care of patients, during the last few decades. The leading cardiovascular complications observed nowadays include iron overload cardiomyopathy and rhythm and conduction disorders. Not only the deposition of iron in the myocardium, but also the chronically increased cardiac output, as well as many other factors, play a role in the damage of the cardiovascular system. It has been found that myocardial iron deposition starts from an early age. As a diagnostic tool, echocardiography does not give precise information about myocardial iron overload. However, it is an easily accessible and safe method for screening and regular follow up, especially for asymptomatic patients. The recently introduced new techniques for myocardial deformation evaluation, such as global longitudinal strain, has been validated for early identification of cardiac dysfunction. This new technique is valuable especially in following up on patients with preserved systolic function. Thus, the opportunities for early detection of cardiac dysfunction in centers where there is not magnetic resonance imaging, are becoming greater. The main strategy in patients with thalassemia major is to start the prevention and treatment of cardiac disorders from an early age. [ABSTRACT FROM AUTHOR]

Objective: This work aims to estimate serum ferritin levels of the B-thalassemia major (BTM) patients in one of the Iraqi thal - assemia centers and to evaluate its relationship with their retarded growth. Methods: this was a cross-sectional study that included 163-patients diagnosed with BTM, undergoing continuous red cells transfusion and chelation therapy. The patients' serum fer-ritin, height, weight, and body mass index (BMI) was measured. The patients were classified into three groups based on their growth states. All the qualitative parameters were displayed as numerical data and percentages, though the quantitative parameters had displayed as mean ± SD. The variations amongst the 3-groups were analyzed by ANOVA test. The regression fit curves between serum ferritin and growth variables were evaluated. The ROC was examined for ferritin value and growth failure. A p<5% was considered as significant. Results: The mean age of the studied subjects were 12.6±3.5 years (range 3-19 years). The mean serum ferritin levels were 1812 ±1024.9 ng/mL, which showed a significant correlation with height, weight, and age. The mean height Z-score was -2.1±1.1, and 70% of the patients had growth failure (GF). The mean weight Z-score was -2.0 ±1.3. Both height and weight had a significant correlation with ferritin levels in BTM patients. ROC-curves revealed a sensitivity, specificity, and CI% of [72%,78% & (0.703-0.858)], respectively for predictability of serum ferritin for GF in BTM patients. Conclusion: In BTM patients, the overall incidence of GF (both mild and severe form) was more than 70%. The mean serum ferritin levels correlated significantly with the growth retardation of BTM patients. [ABSTRACT FROM AUTHOR]

Purpose: To report a case of bull's eye maculopathy probably caused by iron overload in a child with thalassemia major. Methods: Case report. Results: A 6-year-old girl with thalassemia major who was on chronic multiple blood transfusions since 2 years of age presented with blurred vision in both eyes for 2 months. Blood reports showed very high serum ferritin levels in the range 400 to 2,250 ng/mL (checked every 3 months) since 4 years of age. She was on oral iron chelator deferasirox for 2 years, which was stopped a month ago. Fundus examination of both eyes showed a characteristic bull's eye macula with a purplish hue in the outer ring probably due to iron deposition. The center of the bull's eye had a beaten bronze appearance. Conclusion: Careful history-taking is important in children with bull's eye maculopathy because all such retinopathies need not be hereditary fundus dystrophies. Further progression can be arrested by identifying and removing the cause vision loss. [ABSTRACT FROM AUTHOR]

Introduction: Beta thalassemia is an inherited genetic disorder that is associated with severe physical and mental illnesses. The aim of this study was to investigate the effect of “Friends” program training on the loneliness of children with thalassemia major at thalassemia centers of Golestan. Materials and Methods: This quasi-intervention study with two intervention and control groups was conducted on 50 children with thalassemia major aged 8-18 years referred to thalassemia centers in Golestan province in 2019. In the intervention group, the Friends program training was carried out in ten 60-minute long sessions. Demographic information form and Asher’s children loneliness questionnaire were the tools used for data collection. The collected data were analyzed using SPSS software version 25 at the significance level of P < 0.05. Results: The results showed that, the mean score of loneliness before the intervention was 33.32 ± 10.61 in the intervention group and 41.4 ± 12.20 in the control group. The mean score of loneliness after the intervention decreased to 28.36 ± 7.74 in the intervention group, and 40.68 ± 11.68 in the control group. The ANCOVA test showed a significant difference in the mean score of loneliness after the intervention by removing the effect of pretest (P = 0.01). Conclusion: The use of Friends program training can be considered as an efficient method in improving medical outcomes related to the loneliness of children with thalassemia and limiting unnecessary health care costs. [ABSTRACT FROM AUTHOR]

Iron overload-associated organ damage in transfusion-dependent anemias is a well-known phenomenon. Here, we discuss a case of 28-year-old, poorly chelated thalassemia major patient, whose blood workup revealed pancytopenia and moderately raised serum ferritin levels. His bone marrow examination was performed which revealed massive iron overload. Aggressive iron chelation led to successful recovery of peripheral blood counts in his patient. This case focuses on the importance of early detection and timely management of reversible iron overload toxicities. Serum ferritin although is convenient marker to asses iron overload, but it should not be relied upon to assess the severity of iron overload. Hence, organ-specific diagnostic modalities must be used along with serum ferritin to assess the severity of iron overload to prevent long-term complications in patients with regular blood transfusions.

Background and purpose: Patients with thalassemia major need more dental care because of their special health conditions. The purpose of this study was to evaluate dental health and therapeutic needs of these patients in Sari, Iran 2018. Materials and methods: A descriptive cross-sectional study was done using a researcher-made form and direct observation in 144 cases attending Sari Thalassemia Center. The subjects included thalassemia patients (41 males and 34 females) and 69 individuals as the control group. The needs for dental treatment and prevalence of dental problems were recorded using Decayed, Missing, and Filled Teeth (DMFT) index. Data analysis was done in SPSS V24. Results: There were significant differences between the two groups in DMFT index (P< 0.001), decayed teeth (P= 0.004), and missing teeth (P=0.001). In fact, the values except the mean number of filled teeth were higher in thalassemia patients (P=0.150). Pulp therapy was the most common treatment needed in thalassemia patients while dental filling was more needed in control group. Conclusion: High prevalence of dental caries in patients with thalassemia major highlights the need for effective preventive measures, appropriate health trainings, and dental treatments in this group.

Introduction: One way to improve the quality of life of the patients with thalassemia major is to enable them through education. The present research aimed to explore the effects of an educational intervention through mobile phones on self-care behaviors of the patients with thalassemia major Methods: In this quasi experimental study, which was done from May to January in 2017, 91 patients were enrolled who were suffering from thalassemia major.The census sampling method was performed with random allocation of interventional and control groups. Educational intervention was only applied to the intervention group. The study instrument was a questionnaire which was filled out by the patients before and two months after the educational intervention. For data analysis, statistical tests including independent samples t-test, paired-samples t-test, Mann-Whitney test and Wilcoxon test, were used through SPSS v.13 software. Results: Prior to the intervention, the mean scores of knowledge, attitude and self-care behaviors were not significantly different between the intervention and control groups. After the intervention, , however, there was a statistically significant increase in the aforementioned scores in the intervention group (P˂0.05), but there was no statistically significant increase in scores of the control group(P>0.05). Conclusion: The present findings showed the positive effect of the mobile-phone mediated education on knowledge, attitude and self-care behaviors of the patients with thalassemia major. Therefore, the use of mobile phone is recommended as an effective way of transferring instructional material as related to self-care to patients with thalassemia major particularly when access to them is limited.

Thalassemia is a major genetic blood disorder that has negative impacts on thalassemic children and their family. The needs of parents while caring for thalassemia children are important matters because the failure of meeting needs of parents may affect their mental and physical health. Yet, litle is known about factors that meeting the needs of thalasemic child parents. The study aim was to identify factors that correlate with the needs of parents having a school age thalassemic child in west jave province. This research used correlational analytic with cross sectional approach. The population in this study were parents of school-age children with thalassemia major totaling 136 people using the total sampling method. Data were analyzed with bivariate using chi square and biserial points. Then a multivariate analysis used logistic regression. The results showed the age of parents related to information (p = 0.005) and professional (p = 0.004), parent gender related to information (p = 0,000), professional (p = 0.017), social (p = 0.035), financial (p = 0.023) and spiritual (p = 0.009). Parental education is related to information (p = 0,000), social (p = 0,005), emotional (p = 0,000), financial (p = 0,016) and spiritual (p = 0,001). Parent income is related to information (0,000), social (p = 0,006), emotional (p = 0,000), financial (p = 0,003) and spiritual (p = 0,004). The number of thalassemia major children is related to emotional (p = 0.015) and financial (p = 0.013). Parental needs are related to several factors. The importance of increasing the role of nurses as educators and consultants and helping parents find sources of spiritual, emotional and financial support for parents of school-age children with thalassemia. Â

Arwa Khaled,1 Hoda A Salem,2 Dina A Ezzat,3 Hadeel M Seif,4 Hoda Rabee51Department of Clinical Pharmacy, Beni-Suef University Hospital, Beni-Suef University, Beni Suef, 62515, Egypt; 2Department of Clinical Pharmacy, Faculty of Pharmacy, Al–azhar University, Girl Branch, Cairo, 12655, Egypt; 3Department of Pediatrics and Pediatric Hematology, Faculty of Medicine, Beni-Suef University, Beni Suef, 12568, Egypt; 4Department of Radiology, Faculty of Medicine, Cairo University Cairo, Cairo 8582, Egypt; 5Department of Clinical Pharmacy, Faculty of Pharmacy, Beni-Suef University, Beni-Suef, 62514, EgyptBackground: Mortality rates increase due to iron deposition in the cardiac muscles of thalassemia major (TM) patients. Iron overload cardiomyopathy could be treated with a combination therapy of an iron chelator and an L-type calcium channel blocker. We designed a randomized controlled study to assess the potential of amlodipine, alongside chelation, in reducing myocardial iron concentration in TM patients compared with a placebo.Objectives: This study aims to estimate the change in myocardial iron concentration (MIC) determined by magnetic resonance imaging after 6 months of treatment with amlodipine, as well as measuring the changes in the secondary outcomes (liver iron concentration (LIC), serum ferritin level (SF), and left ventricle ejection fraction (LVEF)) of study participants.Methods: A single, randomized, placebo-controlled trial was performed in 40 β-Thalassemia major patients aged between 6 and 20 years old, who received either oral amlodipine 2.5–5 mg/day or a placebo, in addition to a Deferasirox chelation regimen in a 1:1 allocation ratio.Results: After 6 months, a significant reduction was noted in the MIC of patients receiving amlodipine (n=20), compared with the patients receiving the placebo (n=20). At baseline, the mean was 0.76±0.11 mg/g dry weight, while at 6 months, the mean was 0.51±0.07 mg/g dry weight (p

Arwa Khaled,1 Dina A Ezzat,2 Hoda A Salem,3 Hadeel M Seif,4 Hoda Rabee51Department Of Clinical Pharmacy, Beni-Suef University Hospital, Beni-Suef University, Beni Suef, Egypt; 2Department of Pediatrics and Pediatric Hematology, Faculty of Medicine, Beni-Suef University, Beni Suef, Egypt; 3Department of Clinical Pharmacy, Faculty of Pharmacy, Al – Azhar University, Girl Branch, Cairo, Egypt; 4Department of Radiology, Faculty of Medicine, Cairo University, Cairo, Egypt; 5Department of Clinical Pharmacy, Faculty of Pharmacy, Beni-Suef University, Beni Suef, EgyptBackground: The use of T2* magnetic resonance imaging (MRI) has been promoted by recent studies as a noninvasive method for the detection of iron overload in thalassemia major patients. This study aims to estimate the iron load in the heart and liver of thalassemia major patients using T2* MRI and to determine its correlation with the left ventricle ejection fraction and serum ferritin level.Methods: Forty β-Thalassemia major patients were included in the study. We evaluated the serum ferritin level, echocardiography, cardiac T2*, myocardial iron concentration (MIC), liver iron concentration (LIC) and hepatic T2* in all patients. CMR T2* findings were categorized as normal cardiac T2* (T2* >20 ms) or abnormal cardiac T2* (T2*

Due to increasing life expectancy in thalassemia major (TM), osteoporosis is emerging as a significant problem. Its aetiology is multifactorial, culminating in increased bone resorption and impaired remodelling. Hypogonadism and marrow expansion seem to play an important role, but iron overload, deferoxamine toxicity, a defective growth hormone-insulin-like growth factor-1 axis and multiple endocrinopathies may represent additional causes of bone damage. Many of these patients, though under appropriate treatment programs, do not achieve normal peak bone mass. The receptor activator of nuclear factor kappa-ß (RANK)/RANK ligand/osteoprotegerin and the Wnt/β-catenin systems work as major mediators of imbalanced bone turnover and bone loss. Additional genetic factors, such as collagen type 1 alpha 1 and vitamin D receptor gene polymorphisms, may exert some influence on the enhanced fracture risk observed in TM. To date, in spite of adequate hormone replacement, chelating therapy and acceptable haemoglobin levels, subjects with TM display impaired bone density and imbalanced bone turnover, thus the puzzle of the pathogenesis of TM-induced osteoporosis remains far from being solved.

Background Insulin-like growth factor-1 (IGF-1) deficiency is the major cause of growth disorders and delayed puberty in children with thalassemia. Hence, identifying factors contributing to IGF-1 deficiency in thalassemia is of importance. Objectives To evaluate the correlation between IGF-1 level and nutritional status, ferritin level, pre-transfusion hemoglobin, thyroid, as well as alanine transaminase level. Methods We conducted a study in children aged 2 to 18 years with thalassemia major who visited outpatient clinics at two hospitals in Indonesia, Dr. Sardjito Hospital, Yogyakarta and Dr. Moewardi Hospital, Surakarta, Central Java, from July to December 2015. Clinical, laboratory, and demographic data were reviewed from medical records. IGF-1 levels were measured using an immunochemiluminiscent method. Results A total of 48 children were recruited into the study. Subjects mean IGF-1 level was 109.28 ng/mL (SD 90.26) ng/mL. Seventy-five percent of the children had IGF-1 level < -2SD. Subjects mean ferritin, pre-transfusion hemoglobin and ALT levels were 3.568 (SD 2131.31) ng/mL; 7.97 (SD 0.85) g/dL and 49.7 (SD 43.1), respectively. Most of the children (91.7%) was eutyroid, with a mean of TSH and FT4 level was 2.7 (SD 1.5) nmol/L and 12.3 (SD 7.1) μIU/ml, respectively. Ferritin level had no significant correlation with IGF-1 level (r=-0.794; P=0.431). However, a strong, positive correlation was documented between pre-transfusion hemoglobin level and IGF-1 level (r=2.380; P=0.022). Multivariate linear regression analysis revealed that factors with significant correlations to IGF-1 level were pre-transfusion hemoglobin level

Background and objectives: Patients with thalassemia are at high risk of hepatitis B, hepatitis C, HIV infections because of the frequent and long-term need for blood transfusion. In the present study, we aimed to determine prevalence of hepatitis B virus (HBV), hepatitis C virus (HCV) and HIV in patients with thalassemia major in a hospital in Zahedan, Iran. Methods: This descriptive study was performed on 289 thalassemia major patients (130 men and 159 women) who were referred to the Ali ibn Abi Talib hospital in Zahedan, Southeast of Iran. First, serum of patients was checked for presence of antibodies against HB surface antigen, HCV and HIV by ELISA, and then results were confirmed by immunoblotting. Data were analyzed with SPSS 21 software using chi-square test. Results: Of the 289 patients, 11(3.8%) were anti-HBs positive, 11(3.8%) were anti-HCV positive, and none were positive for HIV antibodies. There was no significant difference in the prevalence of the viruses between different age groups. We found no significant correlation between history of HBV vaccination and the absence of infection with the virus in thalassemia patients. Conclusion: Although the prevalence of HCV and HBV infection is not alarmingly high in thalassemia patients in Zahedan (Southeast of Iran), screening of blood donors using more sensitive detection techniques can effectively reduce the prevalence and incidence of these viral infections in this area.

Background: Iran is among the countries located on the thalassemia gene belt. Approximately one-fourth of new thalassemia cases in Iran live in Sistan and Baluchestan Province. The employment of appropriate family planning methods in couples carrying thalassemia gene is one of the major preventive strategies. Objectives: The present study aimed at examining the determinants of contraceptive use in women of reproductive age who have children with thalassemia major living in Sistan and Baluchestan Province, Iran. Methods: The current cross sectional study was conducted on 150 women of reproductive age having children with thalassemia major in Sistan and Baluchestan Province. Data were collected from the thalassemia units of three hospitals in Zahedan, Iranshahr, and Chabahar cities from 2017 to 2018. Data collection tool was a researcher-made questionnaire consisted of three parts: the cover letter, items on the socioeconomic status and demographic characteristics, as well as questions about contraception use. SPSS version 20 was employed to analyze data. Pearson chi-square, two-sample t-test, and enter and backward logistic regression were employed to analyze the study data. Results: Concerning knowledge about contraceptives, 16.4% of respondents were not familiar with any contraception methods. Additionally, 49.3% of the women said that they did not use any contraception methods and about 8% of users did not benefit from safe methods. Results of chi-square/t-tests indicated significant differences between users and nonusers of contraceptives in terms of ethnicity, women’s age, spousal age difference, couple education level, place of residence, polygamy, the desired number of children, distance from health center, and knowledge about contraceptives. Enter and backward logistic regression results also revealed that spousal age difference (odds ratio (OR) = 0.914, P < 0.001), place of residence (OR = 7.68, P < 0.001), and polygamy (OR = 0.127, P < 0.001) were the main predictors of contraceptive use. Conclusions: Despite Iran’s success in lowering thalassemia births, socioeconomic and cultural factors contribute to the risk of new birth with thalassemia major among couples with minor thalassemia in Sistan and Baluchestan Province.

Background: This study aimed to the serological and molecular diagnosis of Toxoplasma gondii infections and related risk factors in patients with thalassemia major and healthy controls. Methods: This case-control study was performed in Shahrekord University of Medical Sciences, Shahrekord, west of Iran from Jan 2014 to Jan 2015. Overall, 235 patients with thalassemia major and 235 healthy controls were enrolled. Assessment of anti-Toxoplasma antibodies in sera samples was performed using commercial ELISA kits. In order to the molecular investigate of T. gondii in blood samples, a relatively new molecular assay, LAMP technique based on Toxoplasma SAG1 gene was conducted for the first time. The specificity of LAMP outer primers for the T. gondii detection was confirmed by sequencing the purified PCR product. Results: 51.9% of thalassemia patients and 34.8% of healthy controls were positive for anti-Toxoplasma IgG antibodies, which the difference was statistically significant (P

Introduction: The development of alloantibodies is a major problem among thalassemia major individuals due to periodic blood transfusions. The current study assessed the frequency and specificity of erythrocytes alloimmunization and also the variables affecting the extent of alloimmunization in repeatedly transfused thalassemia patients. Materials and Methods: This prospective, cross-sectional study was conducted at the Department of Blood Transfusion Services and Thalassemia Centre of Pakistan Institute of Medical Sciences from August 2017 to February 2018. Of the 475 thalassemia major patients, alloantibodies were screened and identified by 3-red cell antigen panel and afterward by an extended 11-cell antigen panel. The data analysis was done through SPSS version 20.0. Chi-square test was employed. Results: Alloantibodies were detected in 77 (16.2%) patients, 5 (6.5%) patients were found with double alloantibodies. Anti-D (31.1%) and Anti-E (29.9%) antibodies had the highest incidence and were found in 24 and 23 patients, independently. Anti-K antibody was observed in 11 (14.3%) and Anti-C in 3 (3.9%) patients. Anti-C (2.6%), Anti-E (2.6%), and Anti-Kpa (2.6%) all were found in two patients, individually. Similarly, Cw (1.3%), k (1.3%), Jka (1.3%), Anti-Fyb (1.3%), and Anti-s (1.3%) antibodies were detected in one patient each. Alloantibodies were common in males, splenectomized patients, in those who initiated their transfusions before 2 years of age, in patients receiving nonleukoreduced blood and in B and O blood group patients. Conclusion: The proper management and prudence are needed for thalassemia patients due to hemolytic nature of these alloantibodies. New techniques should be introduced to reduce the incidence of red blood cell alloimmunization.

Background: Hepatitis C virus (HCV) was encountered as one of the most common infections transmitted through blood transfusion to thalassemic patients. After the discovery of new generations of antiviral drugs labeled direct-acting antiviral (DAA) drug since 2014, promising results were reported compared to older regimen of Peginterferon with or without ribavirin (RBV). Objective: The main objective of the study is to assess the hepatitis C viral status of multitransfused beta-thalassemia major patients and the sustained viral response rate to different modalities of therapy. Materials and Methods: A cross-sectional analytical study was conducted in Erbil Thalassemia Center. A sample of all children and adolescent (18 years or younger) patients of beta-thalassemia major with HCV antibody positive were reviewed according to the available medical records in the center. They were divided into two groups ( first who received interferon ([IFN] ± RBV and second who received sofosbuvir (SOF) and daclatasvir [DCV]) for the aim of the study. Results: Among registered 695 patients with thalassemia major screened for HCV antibody, 659 children and adolescents were included and 186 were tested seropositive (28.22%), and they had been submitted to polymerase chain reaction analysis with HCV-RNA identified in 110 (59.13% of initially ELISA test positive). IFN-dependent therapy was given to 87 patients, while sofosbuvir and DCV for remaining 21 patients, sustained viral response was 100% among those received latter therapy with no reported relapse compared to former regimen of 44.3% sustained response and 6.33% relapse rate. Conclusion: DAA drug has a promising therapeutic result replacing the old therapy of IFN-RBV among thalassemic patients with 100% response rate in the study group.

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.

Thalassemia major is the most common monogenetic disorder worldwide, manifested as chronic hemolytic anemia. This condition leads to the need for chronic blood transfusion to be monitored for an iron overload that may be stored in several tissues and organs, including cardiomyocytes, that might cause a broad spectrum of cardiac iron toxicities such as heart failure conduction delays, myocarditis, and arrhythmias. Non-invasive imaging modalities have their benefits and limitations. Each modality complements and generates a comprehensive diagnostic and monitoring of cardiac siderosis in thalassemia major patients.

UCBT recipients with TM are at high risk of EF related to low number of stem cells and prior alloimmunization after multiple blood transfusions. Here, we evaluated the safety and efficacy of double‐unit UCBT using TT‐containing conditioning regimens in TM. Retrospective analysis of children who underwent double‐unit UCBT for TM in the Prince of Wales Hospital between August 2007 and January 2017, and outcome of double‐unit UCBT for TM was compared with outcome of HLA‐matched sibling BMT. Ten patients, median age 4.2 years, received double‐unit UCBT. All patients except one engrafted at a median of 19 days. None of the patients with successful engraftment had grade III or IV aGVHD. Among nine patients with successful engraftment, six of nine patients evaluable after day 100 developed cGVHD. All patients with cGVHD were well controlled after treatment with steroids and/or supportive care and maintained good quality of life. In comparison with patients receiving BMT, those given UCBT had slower platelet recovery, and more cGVHD. With a median follow‐up of 272 months after BMT and 84 months after UCBT, the 8‐year OS after BMT and UCBT was 92% and 90% (P =.84), whereas 8‐year DFS after BMT and UCBT was 87% and 80% (P =.54). UCB could be an acceptable source of stem cells for transplantation of TM patients when HLA‐matched family bone marrow donors are NA. [ABSTRACT FROM AUTHOR]

Background: Hematopoietic stem cell transplantation (HSCT) is an effective treatment for hematological disorders. Tacrolimus is widely used after HSCT, but it has highly interindividual variable pharmacokinetics. Population pharmacokinetics (PPK) researches of tacrolimus in children with β-thalassemia major (β-TM) undergoing HSCT are insufficient. Objective: To establish a PPK model of tacrolimus in children with β-TM and optimize initial dosing regimen for achieving target concentration of 5 to 15 ng/mL. Methods: Data on patients aged <18 years were retrospectively collected from January 2017 to December 2018. PPK analysis and Monte Carlo simulations were performed using nonlinear mixed-effects modeling. Results: A data set of 55 patients with 332 concentrations was included. A 2-compartment model could best describe the pharmacokinetics of tacrolimus. The body surface area and gender were significant covariates in the final model. The typical value of clearance, the distribution volume of the central room, the distribution volume of the peripheral room, and the intercompartmental clearance were 5.05L/h, 4.33L, 155L, and 6.22L/h, respectively. The optimal initial dosing regimen of 0.03, 0.04, 0.05, 0.06, and 0.10 mg/kg were appropriate for female children with a weight (WT) of 50 to 10 kg. The regimen of 0.04, 0.05, 0.06, 0.07, and 0.12 mg/kg is suitable for male children with a WT of 50 to 10 kg. The probability of target attainment (PTA) of each regimen reached 91%. Conclusion and Relevance: A stable PPK model of tacrolimus was established. The proposed dosage regimen reached a good PTA, which could provide a reference for tacrolimus therapy. [ABSTRACT FROM AUTHOR]

Background: Thalassemia major is the severe form of β thalassemia characterized by severe anaemia, hepatosplenomegaly and facioskeletal changes due to increased haemolysis of defective red blood cells. In iron overload states, high levels of iron exceed the iron-carrying capacity of transferrin within the plasma, leading to the formation of nontransferrin-bound iron form. These nontransferrin-bound iron forms can be taken up into cells, including liver, heart, and endocrine cells leading to organ damage. To prevent complications associated with hemosiderosis, iron chelation therapy remains one of the main objectives of clinical management of the patients affected by Thalassemia Major. Methods: Thirty-seven patients were enrolled using non randomized convenience sampling technique after the written consent from patients. Patients age 2--30 years were enrolled in this study. Serum Ferritin, ALT, Serum Creatinine were checked at the start of the study, 3 months, 6months and then at the end of the study, i.e., at 9 months of the commencement of the study. They were also assessed for other side effects pertaining to oral tolerability of the drug like vomiting, nausea, GI upset, diarrhoea, urinary complaints or any other subjective complaint. Results: Of the 37 patients, 20 were male (54.1%) and 17 were female (45.9%). Mean age of the patients was 10.2 years (Min. 3 years, Max 21 years). The average serum Ferritin at baseline was noted as 3440 which increased after a period of 3 months, 6 months and 9 months with average of 3359, 3677 and 4394 respectively. After the period of 9 months largest 95% confidence interval of serum Ferritin levels was observed in the range of 3420.17 to 5368.63. In our study, 17 patients required alternative chelation (46%). These patients needed IV Deferioxamine because of the rising trend of Serum Ferritin after the study. Conclusion: From the results of our study, we infer that oral Deferasirox is not an effective iron chelator. If the patients are taking oral deferasirox, their Serum Ferritin should be checked 3 monthlies. The drug is effective only in maintaining Serum Ferritin levels with levels less than 1500ng/ml. Intravenous Deferioxamine still should be preferred over oral iron chelators for effective control of iron overload and its complications. [ABSTRACT FROM AUTHOR]

Background: Cardiac, hepatic and pancreatic T2* measured by magnetic resonance imaging (MRI) has been proven to be an accurate and non-invasive method for measuring iron overload in iron overload conditions. There is accumulating evidence that pancreatic iron can predict cardiac iron in young children because the pancreas loads earlier than the heart. The aim of our study was to investigate cardiac function and cardiac iron and their relation to pancreatic iron among patients with β-thalassaemia major (βTM) and sickle cell disease (SCD). Methods: 40 βTM and 20 transfusion-dependant SCD patients were included along with 60 healthy age-matched controls. Echocardiography and Tissue Doppler Imaging were performed for all subjects as well as the control group. Hepatic, cardiac and pancreatic iron overload in cases were assessed by MRI T2*. Results: The study group consisted of 40 βTM and 20 transfusion dependant SCD patients with mean age 13.7 years and mean frequency of transfusion/year 12. Mean cardiac T2* was 32.9 ms and mean myocardial iron concentration was 0.7 mg/g; One patient had cardiac iron overload of moderate severity. Mean pancreatic T2* was 22.3 ms with 20 patients having mild pancreatic iron overload. Pancreatic T2* correlated positively with main pulmonary artery diameter (p=0.046), peak late diastolic velocity at septal mitral annulus (p=0.038), peak early diastolic velocity at tricuspid annulus (p=0.001) and mitral annular plane systolic excursion (p=0.01); and negatively with end systolic pulmonary artery pressure (p=0.007). We couldn’t test the predictability of pancreatic T2* in relation to cardiac T2* as only one patient had cardiac T2* Conclusion: Assessment of pancreatic T2* in multi-transfused patients with βTM and SCD can predict myocardial dysfunction. No direct relation between pancreatic iron and cardiac siderosis was detected.

Iron overload is the primary cause of mortality and morbidity in thalassemia major despite advances in chelation therapy. We performed a pilot clinical trial to evaluate the safety and efficacy of combined therapy with deferasirox (DFX, 20-30 mg/kg daily) and deferoxamine (DFO, 35-50mg/kg on 3-7 days/week) in 22 patients with persistent iron overload or organ damage. In the 18 subjects completing 12 months of therapy, median liver iron concentration decreased by 31% from 17.4 mg/g (range 3.9-38.2mg/g) to 12.0mg/g (range 0.96-26.7 mg/g, p

Background/aim: The aim of this study was to evaluate the intraobserver and interobserver reliability of cardiac T2* MRI measurements in different region of interest (ROI) sizes. Materials and methods: Cardiac T2* MRIs of 24 thalassemia major patients were evaluated. Two different ROI sizes were used for measurement. In the first measurement, an ROI approximately 5 mm in diameter was used in the interventricular septal myocardium. In the other method, the whole ventricular septal myocardium was used as the measurement. The intraobserver and interobserver variabilities were assessed with the intraclass correlation coefficient (ICC). Results: The measurement of the first observer, the ICC of the small-sized ROI (ssROI), was 0.869, and the measurement for the second observer, the ICC of the ssROI, was 0.659. The ICC of the whole-septal ROI (wsROI) was 0.991 for the first observer and 0.980 for the second observer. Interobserver variability, for the mean measurement, was 0.442 for the ICC of ssROI and 0.883 for the ICC of wsROI. Conclusion: For the evaluation of myocardial iron load with T2* MRI we suggest making measurements with ROI, including all of the interventricular septum, as a consequence of high intraobserver and interobserver consistency. [ABSTRACT FROM AUTHOR]

Alternate donor HSCT for thalassemia major from a matched unrelated donor or haploidentical family donor is a feasible therapeutic option in children with no matched family donor. Aggressive pretransplant immunosuppression, reduced toxicity conditioning, and PTCY result in excellent thalassemia‐free survival. We describe here our experience in this cohort. We performed a retrospective analysis of the data on children who underwent a haploidentical HSCT for thalassemia major with PTCY at our center from August 2017 to August 2019. All children received pretransplant immune suppression for 6 weeks with fludarabine and dexamethasone, hypertransfusion and chelation with intravenous desferrioxamine. Conditioning included thiotepa, fludarabine, rabbit ATG, and cyclophosphamide, and GvHD prophylaxis included PTCY with tacrolimus. Twenty children were included and nineteen children engrafted. Acute hypertension occurred in five children, bacterial infection in eight children and viral respiratory infection in three children. Three children suffered from graft rejection. Reactivation of viruses namely CMV, adenovirus, and BK virus was seen in 60% of children. Grades 1‐2 acute GvHD of the skin in four children (20%) and limited chronic GvHD of the skin in four children (20%). Immune cytopenia was documented in three children (15%). Haploidentical HSCT offers a therapeutic option for children with thalassemia major with no suitably matched family or unrelated donors. Our reduced toxicity regimen with PTCY offers a DFS of 75% and OS of 95% with low transplant‐related mortality of 5%. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Cardiac complications are the major cause of mortality in patients with Thalassemia major (TM). Cardiac T2* MRI is currently the gold standard for assessing myocardial iron concentration. The aim of our study was to assess whether any echocardiographic parameter would correlate with these findings in patients well established on chelation therapy. This was a prospective study on patients with TM who are regularly followed in our clinic. Patients had a cardiac MRI and echocardiogram within 2 months of each other. Echo parameters included global longitudinal strain and diastolic function. We also compared these findings with those from a cohort of thalassemia intermedia (TI) and normal controls. A total of 84 patients (mean age 26.3 ± 6.1 years, 42.8% male) with TM were enrolled. All had normal left ventricular ejection fraction and only 8 patients had MRI T2* < 10. As compared to 17 patients with TI and 53 controls, these patients had significantly higher E/E' and lower pulmonary vein s/dd ratio suggesting early diastolic dysfunction. 28 patients fulfilled criteria for diastolic dysfunction even in the presence of normal MRI T2*. Global longitudinal strain (GLS) was significantly lower in the TM group as compared to the TI and controls. We found no correlation between any of the echo findings and the MRI T2*in TM patients. In patients with thalassemia and MRI T2* > 20 ms features of diastolic dysfunction persist even in the presence of normal LV function and normal GLS. This suggests that diastolic function remains abnormal even when myocardial iron concentrations are normal and follow up therefore is essential. [ABSTRACT FROM AUTHOR]

Background: We aimed to determine the level of serum vitamin D and serum ferritin in four groups' children and adolescents., Methods: This descriptive/analytical study was conducted in 2019 on children and adolescents with thalassemia aged 7-18 years in Ahvaz, Iran. Overall, 160 patients with the target inclusion and exclusion criteria were assigned into four groups (n=40) of people with thalassemia minor, thalassemia major, iron deficiency anemia and healthy individuals. The level of ferritin and vitamin D was assessed. Mann-Whitney test, Wilcoxon test and Spearman's correlation test were used as well as SPSS Statistics V21., Results: The mean age of the participants was 13.07 ± 3.82 yr and 100 people (62.5%) were male. In terms of vitamin D deficiency, 16 people (40%) had severe deficiency in iron deficiency group. The highest level of ferritin was found in thalassemia major group and the lowest in iron deficiency group. Regarding the level of vitamin D and ferritin in the healthy group, there was a statistically significant difference between mean vitamin D and serum ferritin levels ( P =0.027). In iron deficiency group, this level of ferritin was observed with mild deficiency ( P =0.017). In thalassemia major group, the increase in ferritin was associated with severe vitamin D deficiency ( P =0.05., Conclusion: Severe vitamin D is seen in thalassemia major due to the increase in ferritin, but moderate deficiency of this vitamin in healthy people and mild deficiency in iron deficiency anemia group was observed considering the normal levels of ferritin., (Copyright© 2024 Hemmatipour et al. Published by Tehran University of Medical Sciences.)

The life expectancy of thalassemia patients has increased significantly in recent years being the most “elderly” patients approaching or are over 50 years old. Consequently, patients' perspectives have changed, leading them to longer-term planning with a consequent increase in their reproductive potential and desire to have children. Crucial points in the management of pregnancy in thalassemia are the iron chelation therapy before and during pregnancy, the antithrombotic prophylaxis, the management of transfusion therapy according to the modified transfusion requirement, a cardiologic monitoring for hemodynamic changes that expose an increased risk of heart failure. Pregnancy in women with sickle cell disease is still associated with increased rates of maternal and fetal mortality and adverse outcomes. Maternal morbidity may be due to acute sickling crises, thromboembolism, infection, and chronic end-organ dysfunction, while neonatal outcomes may be intrauterine growth retardation, preterm delivery, small infants for gestational age, stillbirth, and neonatal death. The management of pregnancy in thalassemia and sickle cell disease requires to be approached by a multidisciplinary team and followed from the pre-conception phase until the post-partum period with a close monitoring of the maternal and fetal conditions, in order to ensure optimal outcome. This approach requires the application of well-defined protocols that cover all the critical aspects of pregnancies in women affected by these pathologies. We describe our experience of spontaneous and non-spontaneous pregnancies in patients with thalassemia major and intermedia and sickle cell disease followed between 1992 and 2018 at the Thalassemia Unit of S. Eugenio Hospital of Rome.

Background: Thalassemia Major (TM) is a complex pathology that needs a highly skilled approach. Endocrine comorbidities are nowadays the most important complications, including hypogonadism, hypothyroidism, diabetes mellitus, and bone diseases. Recent works stated that there could be a relevant prevalence of adrenal insufficiency (AI) present in TM, and this fact may become crucial, especially in case of major stressful events.Aim: Test the reliability of the standard test to diagnose AI in a group of TM and correlate it with clinical, hematological, and radiological data.Methods: We evaluated endocrine damages and the efficacy of iron chelation therapy in 102 patients affected by TM. AI was assessed by tetracosactide (Synacthen) 1 mcg iv (low-dose test, LDT) stimulation test. Patients with a subnormal response (peak cortisol < 500 nmol/L) were followed up to 5 years to check the symptoms and signs of AI.Results: We found AI in 13.7% of the population studied. We did not find any correlation between AI and all data evaluated. Only female gender seems to be a protective factor. A follow up of the patients affected by AI showed no signs of adrenal crisis, in spite of no replacement therapy.Conclusions: Our study shows a relevant prevalence of AI in TM, especially in males. The absence of an adrenal crisis, in spite of no replacement therapy, during the long-term follow up, seems to underline that current methods to evaluate AI, in TM, should consider a different and specific diagnostic test or different cut off for diagnosis.

Hepatitis C virus (HCV) infection is one of the most serious complications of transfusion therapy in the thalassemia and sickle cell disease (SCD) population before 1990; in fact, since 1990 serological tests were made available to detect infection in blood donors. The iron chelation therapy has improved the life expectancy of these patients and, consequently, a decrease in death due to heart disease may be observed, as well as an increase in liver disease due to the iron overload and HCV infection that lead to liver fibrosis, cirrhosis, and hepatocellular carcinoma. Until few years ago, the recommended therapy for HCV treatment consisted of pegylated-interferon alpha plus ribavirin, a therapy with important side effects. This treatment has been severely limited to thalassemic and SCD patients due to the hemolytic anemia induced by ribavirin causing an increase in the number of blood transfusions. The development of highly effective Direct-acting Antiviral Agents toward different viral genotypes has led to a real HCV eradication with negative viremia and sustained viral response between 90 and 98%. At the beginning some indications of Direct-acting Antiviral Agents administration were available for those patients exhibiting advanced cirrhosis or needing liver transplantation over time for the high costs of the new drugs. Recently, all treatment regimens can be used for patients with various HCV genotypes, different stages of liver disease, and comorbidities. The HCV eradication has also led to a marked improvement in the parameters of martial accumulation, demonstrating a synergic action also between the effect of antiviral therapy and iron chelation.

Background: In patients with β-thalassemia major (TM), one of the long-term complications of regular blood transfusion is renal dysfunction. The purpose of the current study was to evaluate the renal function in TM patients receiving Exjade® dispersible tablets and a new film-coated tablet formulation of deferasirox (Nanojade®). Materials and Methods: In this descriptive cross-sectional study, a total of 80 TM patients aged 11–48-year-old entered the study. Patients received 20–30 mg/kg/d (single dose) Exjade® (Exjade group, n = 40) and Nanojade® (Nanojade group, n = 40) orally. To evaluated renal function, serum creatinine (SCr), estimated glomerular filtration rate (eGFR), blood urea nitrogen (BUN), 24-h urine protein (UPro), UCa/UCr, spot UPro/UCr ratio, and serum ferritin were calculated at baseline and every 3 months to 9 months. Results: There was no significant difference in SCr, BUN, eGFR, 24-h UPro, UPro/UCr ratio, UCa/UCr ratio, and serum ferritin between groups at baseline and end of study (Pbaseline > 0.05, Pend of study > 0.05). There was no significant difference in proteinuria between groups at baseline and end of study (Pbaseline > 0.05, Pend of study > 0.05). Conclusions: The proportion of SCr, BUN, eGFR, 24-h UPro, UPro/UCr ratio, and UCa/UCr ratio was not significantly different in TM patients treated with Nanojade® compared to patients' received Exjade®. Nanojade® had similar effects to Exjade®, and therefore, the use of Nanojade® is safe in TM patients and does not seem to be associated with increased renal failure, proteinuria, and hypercalciuria.

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.

Background Thalassemia major is a chronic disease requiring lifetime treatment. A recent study showed that 11-62% of thalassemia patients developed depression, which is associated with high morbidity and mortality. Understanding the extent of the problem related to depression and its contributing factors is important for early management. Objective To determine the prevalence and contributing factors for depression in children with thalassemia major. Methods This cross-sectional observational analytic study included thalassemia major patients aged 7 to 13. Data were analyzed using SPSS for Windows ver. 22.0. Results There were 64 patients included in this study, with mean age 12 (SD 3) years and 82.8% female. Most subjects came from families with low socio-economic status and low parental education. Deferiprone was the most commonly used type of iron-chelating agent. Depression was detected in 34.4% of respondents. Multivariate analysis revealed that factors affecting depression in children with thalassemia major were low maternal education (OR 4.014; 95%CI 1.066 to 15.112) and use of deferasirox (OR 4.129; 95%CI 1.168 to 14.601). Conclusion Prevalence of depression in children with thalassemia major is 34.4%. Low maternal education and deferasirox use as an iron-chelating agent are associated with depression in children with thalassemia major.

Sickle cell disease and homozygous β-thalassaemia are common haemoglobinopathies in Oman, with many implications for local healthcare services. The transfusions of such patients take place in many hospitals throughout the country. Indications for blood transfusions require local recommendations and guidelines to ensure standardised levels of care. This article summarises existing transfusion guidelines for this group of patients and provides recommendations for blood banks and transfusion services in Oman. This information is especially pertinent to medical professionals and policy-makers developing required services for the standardised transfusion support of these patients.

ABSTRACT Beta thalassemia major is one of the common diseases in the world; it is one of health problems among children in Iraq. The disease leads to hemolytic anemia due to reduction of beta globin chains. Zinc and copper are important trace elements for synthesis of metalloproteins of hemoglobin enzymes. As zinc and copper are essential trace for synthesis of DNA; it is important to show their effect on severity of the disease among thalassemic patients. This study was performed during the period from November 2014 to June 2015. A total of 100 β-thalassemia major patients were enrolled in the current study; and patients were from the Thalassemia center in Azadi Teaching Hospital and 30 healthy children were taken as a control group. The blood samples were collected from 46 males and 54 females of different ages, ranging from (1-18) years. The level of serum zinc and copper were measured using spectrophotometer method. Comparison between thalassemic patients with control group; the results shown that there was high significant increased (p>0.01) in serum level of copper (148.69±28.90) while in serum level of zinc was decreased in thalassemic patients (60.52±10.63). Statistically there was no significant difference between different age groups and gender. The copper and zinc values decreased in splenctomized patients in comparison with non-splenctomized patients. The present study concluded that the level of serum copper increased while the level of serum zinc decreased in β-thalassemia major patients, this is also confirmed by other studies.

Background and Aim: Thalassemia is a chronic disease which is extremely expensive, complex and debilitating. The management skill of thalassemia patients should be enhanced to minimize the risk of disease complications. The main purpose of this study was to develop personal electronic health records for thalassemia major patients. Materials and Methods: This is a developmental applied study which was conducted to develop a personal electronic health record for thalassemia major. First, a questionnaire was prepared to determine the data elements and was filled by Hematology and Oncology professionals in the country (110 persons). Then, based on the results of needs analysis, the system was designed using PHP programming language and MySQL database and was evaluated by 50 thalassemia patients who referred to the Thalassemia Clinic of Bu Ali Sina Hospital of Mazandaran University of Medical of Sciences during the second half of the month of Aban. Finally, a standard questionnaire of usability and user satisfaction assessment was distributed among them. Results: Usability evaluation of the system showed that patients evaluated the system at a good level with a mean rating of 7.91 (out of 9 points). Conclusion: The web-based systems can be used to help thalassemia patients to control injection and reduce the complications of the disease and to promote health.

BACKGROUND: Platelet dysfunction may be one of the pathophysiologic complications in beta-thalassemia patients. However, the results obtained from the platelet aggregation vary in different types of β-thalassemia and among patients. OBJECTIVE: We evaluated the platelet function to determine risk of thrombosis in two groups': beta-thalassemia major (TM) and intermedia (TI). MATERIALS AND METHODS: In a cross-sectional study, platelets of 82 adult patients with beta-thalassemia (46 β-TM and 36 β-TI) who had undergone splenectomy and 85 normal healthy individuals as control were induced by collagen 10 μ g/ml, adenosine diphosphate (ADP) 20 μ M/l, arachidonic acid 500 μ M/l, and ristocetin 1500 μ g/ml. Independent t-test was used to compare the mean values using SPSS 16. P < 0.05 was taken to indicate statistical significance. RESULTS: Although a significant increase was observed in the platelet aggregation by collagen, ADP, and arachidonic acid in β-TM patients as compared with healthy controls, the β-TI patients showed no difference (P < 0.05). There was no significant alteration in response to ristocetin in β-TM but it reduced in β-TI. CONCLUSIONS: The platelet aggregation in β-TM patients is more than β-TI, both of whom splenectomized. The platelet aggregation in beta-thalassemia might be impressed by transfusion. Given these changes, thrombotic risk should be considered in beta-thalassemia patients.

• HLA-matched transplant in pediatric patients with hemoglobinopathy is reported. • Close monitoring of cyclosporine A (CsA) with a goal-oriented Bayesian method is described. • GVHD prophylaxis, using antithymocyte globulin in the conditioning regimen and then CsA alone, is effective. • No graft rejection, low rate of GVHD, 100% overall survival, and 100% disease free-survival are reported. • This study opens new perspectives to improve efficacy of transplant. Graft-versus-host disease (GVHD) is an important challenge and a major cause of morbidity and mortality in children after hematopoietic stem cell transplant (HSCT). Herein we report our institution's experience of goal-oriented Bayesian monitoring for cyclosporine (CsA) used alone as GVHD prophylaxis during the post-transplant period in pediatric patients with thalassemia major (TM) or sickle cell anemia (SCA) undergoing HLA-matched HSCT. We also studied evolution of chimerism. Twenty-six consecutive patients (SCA, 14; TM, 12) underwent matched sibling donor (MSD) HSCT from 2004 to 2014. All patients received a myeloablative conditioning regimen. GVHD prophylaxis consisted of 20 mg/kg antithymocyte globulin in the conditioning regimens and then CsA alone in the post-transplant period. Target CsA trough blood concentration (TBC) was 150 ± 20 ng/mL. At last follow-up, all patients were alive and free of disease, even in cases of mixed chimerism. Engraftment occurred in all patients. No patient developed grades II to IV acute GVHD, 4 patients developed acute grade I skin GVHD, and only 1 presented with chronic pulmonary GVHD. A better control of GVHD and immunosuppression by a strict monitoring of CsA TBC as described herein is promising and could play a crucial role. Further investigations are required, but this study opens new perspectives to improve survival and safety of HSCT from alternative donors in TM and SCA to levels compatible with that obtained with MSDs. [ABSTRACT FROM AUTHOR]

Patients with beta thalassemia major (TM) are transfusion-dependent (TD) since early childhood and for life. Development of alloantibodies and autoantibodies against red blood cell (RBC) antigens is increasingly recognized as a significant transfusion hazard, especially among heavily transfused patients. The aim of this study is to assess RBC alloimmunization and autoimmunization rates in TD TM patients treated in our Comprehensive Center of Adult Thalassemia, Hemoglobinopathies and Rare Anemias. TD TM patients, regularly transfused every 2–3 weeks, were included in the study. Clinical and RBC transfusion records, including RBC antibodies, since diagnosis in early childhood, were retrieved from patients' files and from the blood bank database. Forty TD TM patients, > 18 years of age, were included in the study. Alloimmunization was demonstrated in 17 (42.5%) patients. Thirty-four alloantibodies were detected, with the most frequent being RH related (12 of 34, 35.3%) followed by those of the Kell system (8 of 34, 23.5%). Age at first transfusion was positively related to the probability of developing alloantibodies (p = 0.02). Splenectomy was found to be correlated with developing alloantibodies (p = 0.016). Logistic regression analysis of the lifelong probability of developing alloantibodies on the age at first transfusion and splenectomy demonstrates a strong positive relationship (p = 0.002). A substantially high rate of alloimmunization was found among adult TD TM patients. Early initiation of RBC transfusions, avoidance of splenectomy and extended Rh and K antigen matching, can reduce the incidence of alloimmunization in TD TM patients. [ABSTRACT FROM AUTHOR]

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: The 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<0.05). There was a significant relationship between different domains of quality of life and CPITN and OHIP-14 in thalassemia patients (P<0.05). Also patients with dry mouth had lower quality of life. Conclusion: Hemophilia and thalassemia patients indicated undesirable oral health. It is necessary to improve multidimensional strategies in various fields of health care in patients. [ABSTRACT FROM AUTHOR]

Hepcidin is an antimicrobial peptide have an important role in iron metabolism especially in β-thalassemia major patients where receiving a big amount of iron during repeat blood transfusion, hepcidin expression regulated by iron state, hypoxia, inflammation . A case- control study was conducted at Basrah province (Hereditary blood disease center) during the period from 18 November 2019 to 15 April 2020. 60 patients with β thalassemia major and 28 healthy controls. Plasma levels of s. iron, ferritin, hepcidin, high sensitive C-reactive protein, interleukin 1(IL-1α), interleukin6 (IL-6), tumor necrosis factors (TNF-α) and transforming growth factor(TGF-β1) were determined using an enzyme linked immune-sorbent assay (ELISA) kits. The mean concentration of iron, ferritin, hepcidin, IL-1α,IL-6, TNF-α and TGF-β1 P≤0.0005, P≤.000, P≤ 0.028, P≤0.01, P≤0.031, P≤ 0.006, P≤0.003 respectively. The statical analysis revealed a high significant correlation of hepcidin with iron, ferritin, IL-1α, IL-6, TNF-α at level P≤0.015, P≤0.01, P≤0.027, P.≤,0.017, P≤0.015 respectively but there were no correlation with hs-crp and TGF-β1 at level P.≤0.265, 0.232 respectively. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]