Search

• With advances in supportive care and a higher index of suspicion for adverse effects, early interventions can help provide equivalent overall survival rates of 93% in children undergoing family and alternative donor hematopoietic stem cell transplantation (HSCT) for thalassemia major. • Immediate complications like infections (25% versus 21%) are similar, but the incidence of posterior reversible encephalopathy syndrome is higher (10% versus 3%) in matched unrelated donor (MUD) children and they require short-term intensive care support. • Newer steroid-sparing agents for graft-versus-host disease (GVHD), reducing the dose of CD34 to less than 5 × 106/kilogram, and slow tapering of immunosuppression after the first 18 months help reduce morbidity and mortality due to GVHD and help optimize outcomes among the MUD HSCT recipients. Hematopoietic stem cell transplantation (HSCT) is the only curative option available for patients with thalassemia major in India with increasing access to alternate donor transplantation for patients with no matched family donor. We aimed to analyze the impact of family and alternate donor HSCT on morbidity and mortality post-HSCT. We conducted a retrospective study in the department between July 2007 and December 2018 where all children who underwent HSCT for thalassemia major were included. A total of 264 children were included with a median age of 6 years (male/female, 1.4:1). The graft source was matched related donor (MRD) (76%; parent 15%, sibling 85%) and matched unrelated donor (MUD) (22%). All children received a myeloablative conditioning regimen with treosulfan/thiotepa/fludarabine in 93% and busulfan/cyclophosphamide in 7%. The source of stem cells was peripheral blood in 61%, bone marrow in 38%, and umbilical cord blood in 3%. The incidence of bacteremia was 14% versus 25% in MRD versus MUD groups. There was a higher incidence of posterior reversible encephalopathy syndrome (PRES) in the MUD group (10% versus 3%). Engraftment occurred in 97% with a higher trend toward mixed chimerism in the MRD group (12% versus 2%). When indicated, whole-blood donor lymphocyte infusion was used to ensure complete chimerism in children in the MRD group. A statistically significant difference was found in the incidence of graft versus host disease (GVHD), both acute and chronic between the MUD versus MRD groups, 60% versus 20% and 41% versus 17%, respectively (P =.001). Similarly, immune cytopenia and cytomegalovirus reactivation were also significantly higher in the MUD group, 27% versus 1.4% and 25% versus 2%, respectively (P =.001). Thalassemia-free survival in our cohort was 96%, 94%, and 84% with a median follow-up of 65 months in the matched sibling donor, matched family donor, and MUD groups, respectively. Overall survival of 95% and 90% with a median follow-up of 65 months was noted in those who underwent transplantation less than and greater than 7 years of age, respectively. MUD transplantation for patients with thalassemia major involves specific challenges such as PRES and unusual manifestations of GVHD such as immune cytopenia. Early interventions to optimize supportive care and measures to reduce GVHD are required to ensure survival rates of over 90%. [ABSTRACT FROM AUTHOR]

Aim: Iron overload in tissues, despite current chelation therapies, is a major cause of organ dysfunction and serious complications in thalassemia major. Similarly, iron accumulation in endocrine tissues pave the way for various endocrinopathies. Previous reports regarding prevalence of endocrinopathies in thalassemia major varies significantly based on study population. In this study, we aimed to investigate the metabolic and endocrine disorders among the transfusion-dependent adult thalassemia major patients. Materials and Methods: Data from transfusion-dependent adult thalassemia major patients with regular follow-up were retrospectively evaluated. Former records of the patients were examined to evaluate endocrine disorders, on the basis of laboratory test results. Results: A total of 76 patients with a median age of 28 years, composed of 39 (51.3%) female and 37 (48.7%) male patients were included. Out of the entire cohort, 36.8% (n=28) had hypogonadism, 30.3% (n=23) had thyroid dysfunction, 28.9% (n=22) had a glucose metabolism disorder and 7.9% (n=6) had hypoparathyroidism. Hypogonadism was encountered in 38.5% (n=15) of females and in 35.1% (n=13) of males. Only one patient from each gender had hypergonadotropic hypogonadism, possibly related to iron overload, while the rest had hypogonadotropic hypogonadism. A positive history of delayed puberty was noted in 30.8% (n=12) of females and 24.3% (n=9) of males. Of the patients, 30.3% (n=23) had one, 18.4% (n=14) had 2, 10.5% (n=8) had 3, and 1.3% (n=1) had 4 different endocrine dysfunctions. Accordingly, 61.5% of the patients had at least one endocrine dysfunction while only 39.5% (n=30) had no endocrine dysfunction at all. Conclusion: Survival time has been prolonged in patients with thalassemia major by virtue of effective transfusion and chelation therapies. As a consequence of prolonged survival, endocrine dysfunctions commonly strike adult thalassemia major patients, therefore, endocrine functions need to be evaluated at regular intervals during follow-up. [ABSTRACT FROM AUTHOR]

Background and Objectives Mothers of children with thalassemia as primary caregivers face problems with treatment and care issues. These problems as consequences of child’s illness often lead to inappropriate adaptive behaviors. The aim of this study was to disclose the relationship between caregiver burden and adaptive behaviors in mothers of children with thalassemia. Materials and Methods In this cross-sectional study, 70 mothers of children with thalassemia major who had referred to the Thalassemia Clinic of Ali Asghar Hospital, Zahedan, in 2016 were studied. Data were gathered using a demographic questionnaire, the Coping Health Inventory for Parents (CHIP), and the Caregiver Burden Scale (CBS). The results were analyzed in SPSS 22 using descriptive statistics, Pearson correlation coefficient, and stepwise multiple regression. Results The mean scores of mothers’ care burden and adaptive behaviors were 56.92 ± 12.84 and 57.07 ± 19.84, respectively. It was observed that while care burden has a significant inverse relationship with the total score of adaptive behaviors (r = -0.41, p < 0.001), it displays a direct significant relationship with mother's education (r = 0.26 p = 0.05). The results of multiple regression analysis suggested that the two components of adaptive behaviors and mother’s education could predict 18% of changes in mothers’ care burden. Conclusions According to the results, it is recommended to utilize appropriate educational and supportive interventions for improving the mothers' adaptive behaviors and continuous evaluation of these interventions is necessary. [ABSTRACT FROM AUTHOR]

Background Cardiomyopathic manifestations induced by continuous blood transfusion are the leading cause of death among patients with thalassemia major (TM). Despite introduction of chelation therapy, heart failure after cardiomyopathic manifestations is still a major threat to patients. Methods We performed a search of relevant English-language literature, retrieving publications from the PubMed database and the Google Scholar search engine (2005–2018). We used "thalassemia major", "cardiomyopathy", "iron overload", "cardiac magnetic resonance T2" "chelation therapy", and "iron burden" as keywords. Results The results of the studies we found suggest that cardiac hepcidin is a major regulator of iron homeostasis in cardiac tissue. Unlike previous assumptions, the heart appears to have a limited regeneration capability, originating from a small population of hypoxic cardiomyocytes. Conclusions Oxygen levels determine cardiomyocyte gene-expression patterns. Upregulation of cardiac hepcidin in hypoxia preserves cardiomyocytes from forming out of reactive oxygen species catalyzed by free cellular iron in cardiomyocytes. Using the limited regeneration capacity of cardiac cells and gaining further understanding of the cellular aspects of cardiomyopathic manifestations may help health care professionals to develop new therapeutic strategies. [ABSTRACT FROM AUTHOR]

Background: Several studies indicated that elevated serum ferritin levels, which represents iron deposition, associated with the extent of hypogonadism thalassemia major (TM) patients. This study aimed to determine the correlation between serum ferritin levels and total testosterone (TT) levels as a marker of gonadal function in adult male TM patients. Methods: A cross-sectional study was enrolled in all male transfusion dependent TM patients in hematologic outpatient clinics of Dr. Soetomo General Hospital, Surabaya. Total testosterone and serum ferritin levels were measured in the morning, under fasting conditions. Results: A total of 30 male TM patients aged 18-45 years were recruited. Subjects already underwent regular blood transfusion for 16.87±6.72 years along with oral iron chelation regimen. Symptoms related to low testosterone levels, decreased libido and erectile dysfunction, were found on small proportion (10 and 20%, respectively). Short stature was found on 7 subjects. Pubertal delay was detected on 6 subjects. All subjects were severe iron overloaded, with average serum ferritin levels of 4765.4±1955.01 ng/mL. Low TT levels were presented in 6 subjects, although average TT levels was 650.8±287.65 ng/dL. Serum ferritin levels showed no significant correlation with TT levels (p = 0.538), even after adjusted for age and duration of transfusion. Conclusions: The present study did not prove association between serum ferritin levels with TT levels in adult male TM patients. Endocrine complications, especially hypogonadism, should be anticipated in all adult male TM patients. [ABSTRACT FROM AUTHOR]

Introduction: The free iron and haemosiderosis-induced damage of the endocrine glands cause endocrinopathies such as abnormal glucose tolerance and hypothyroidism in transfusion - dependent beta-thalassemia major patients. Our objective was to study the association of serum ferritin level with thyroid dysfunctions; abnormal blood glucose tolerance and to see if they appear in the earlier period of life. Methods: This cross-sectional study was done among thalassemia major children of two to 12 years in a tertiary care hospital, Kolkata, India. A pre-designed proforma was filled. Serum ferritin, fT4, TSH level, and oral glucose tolerance test (OGTT) were measured at presentation and noted in proforma. Results: A total of 80 thalassemic children were studied. Fiftieth percentile cut off value (1414 ng/ml) of serum ferritin was found to be significant with associated variables like normal fT4, TSH, and OGTT. Out of all study subjects, 39 (51.3%) of normal fT4, 39 (54.9%) of normal TSH and 39 (52.0%) of normal OGTT had ferritin < 50th percentile (P < 0.05). Nine (11.3%) children had abnormal thyroid profiles and five (6.3%) children had abnormal OGTT having ferritin > 2000 ng/ml. At a cut off value of ferritin level > 1414 ng/ml, fT4, TSH and OGTT showed significant abnormality (p < 0.05 with df 1). Conclusions: Ferritin is a good indirect marker to assess the risk of endocrine abnormality in thalassemic children. Frequent monitoring should be done once ferritin level crosses 1000 ng/ml. This will help in early detection and timely management of thalassemia related endocrinopathies. [ABSTRACT FROM AUTHOR]

Thalassemia major is quite prevalent in Iraq with about 15000 patients. Thalassemia is big health issue that have very big burden on health services. In Iraq 19 thalassemia center that reflects the importance of disease. Premarital testing for thalassemia is of prime importance of awareness of couples about the risk of getting the disease to their offspring and the complications of the disease. Education program is also important using mass media leaflets and posters about the importance of prevention of the disease. [ABSTRACT FROM AUTHOR]

β-Thalassemia major is an inherited blood disorder caused by drop or total absence of beta globin chains. Patients with this blood disorder are repeatedly needed to blood transfusion to survive. There are many experimental and clinical evidence that suggested that the oxidative stress and free radical plays an important role in thalassemia. The aim of the present study was to investigate the level of antioxidant enzymes and trace element with interleukin 6 in P thalassemia major patients. The blood samples were obtained from 50 patients (30 with β-thalassemia major and 20 healthy controls).The serum levels of MDA, GSH, Vitamin (E, C), trace element (Fe, Zn, Cu, Se) and antioxidant enzymes (SOD, CAT, GPx) and interleukin 6 were anaslysed using conventional methods. The results showed that the level of MDA, Fe, Cu and interleukin 6 were significantly increased (P<0.05), whereas the activities of GSH, Vitamin (E, C), trace element (Zn, Se) and antioxidant enzymes (CAT, GPx) were decreased significantly (P<0.05) in β-thalassemia major patients compared with healthy control. This results suggested that the β thalassemia patients disease activity and progress could be investigated by determining the oxidative stress marker, trace element and interleukin 6 levels. [ABSTRACT FROM AUTHOR]

Aim: Endocrinopathies are common in patients with thalassemia major (TM) and affect their life quality. Our aim was to identify the frequency of growth retardation and endocrine complications in these patients. Materials and Methods: Sixty-two patients aged 3-18 years with TM were evaluated retrospectively for height, weight, body mass index (BMI), and pubertal stage. Blood tests for endocrine function, and oral glucose tolerance test (OGTT) results were recorded. Results: The mean age of 62 subjects (33 females/29 males) was 10.4±3.9 years. The frequency of ≤-2 standard deviation scores was 37.1% for height, 33.9% for weight and 11.3% for BMI. Short stature, being underweight, and low BMI were significantly more prevalent in children over 7 years old (p

Allogeneic stem cell transplantation (allo-SCT) is the only currently available curative treatment for thalassemia major. Since it was first done in 1981, several thousand patients have benefited from it and it is now possible to offer this treatment in different parts of the world with good results. With better risk stratification and supportive care, the results of allo-SCT are now very good even in high risk patients who have significant iron overload related organ dysfunction. The improvements have mainly been in the conditioning strategies with less toxic myeloablation and management of the complications of SCT. However, several challenges remain. Transplant related complications still cause significant morbidity and mortality. There is data to show that the results of transplantation as best if done in well transfused and chelated patients

Objectives: Thalassemia is the most common genetic disorder in the Mediterranean region. Despite recent advances in the management of thalassemia, people living in developing countries do not receive satisfactory treatment. For such chronic conditions, not only is patients' survival important but their quality of life (QOL) is also important, which is primarily driven by psychological and social constraints. This study explores various factors that affect QOL in transfusion-dependent thalassemia patients. Methods: This case control study included children with thalassemia major who received regular transfusions for the last five years. Controls were matched for age, gender and socio-economic status and included only healthy children. Different types of QOL were assessed using the World Health Organization (WHO) Quality of Life Assessment tool. Results: Our study included 90 cases (8 dropouts) and 98 controls (0 dropouts), with an average age of 8.3 ± 4.4 in cases and 12.2 ± 4.7 in the control group. The total mean aggregate score of all patient questions was 82.04 ± 15.54; in the control group, the score was 87.86 ± 12.9. In nearly all factors, differences between cases and controls were most significant in males. There were no significant differences for the variables of physical pain, appearance and relations with others in both groups. Conclusion: Although there was no significant difference in the QOL score in thalassemia children, a more significant difference was observed in male patents than in females. The implications of this finding must be explored in further case-control studies.

Background Thalassemia major patients who undergo routine transfusion have an increased risk of acquiring transfusion-transmitted infections (TTI), including hepatitis B and C. These diseases have serious implications and may affect the serum ferritin and aminotransferase levels of thalassemia major patients. Objectives To identify the prevalence of hepatitis B and/or C infections among thalassemia major patients and to evaluate its correlation with serum ferritin and aminotransferase levels. Methods This was across-sectional study conducted at the Thalassemia Center of Dr. Cipto Mangunkusumo Hospital in Jakarta, Indonesia. The subjects were screened for hepatitis B and C infections, and their serum ferritin and aminotransferase levels were also measured. Results In total, 621 subjects were included in the study, among which 5 subjects tested positive for hepatitis B surface antigen (HBsAg) (0.8%), 111 subjects tested positive for anti-HCV (17.8%), and 5 subjects tested positive for both HBsAg and anti-HCV (0.8%). The subjects who tested positive for hepatitis B, hepatitis C, or both showed significantly higher values of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and serum ferritin compared to their negative counterparts. Moreover, serum ferritin showed a positive, moderate correlation with both AST and ALT. Conclusion This study shows a significant association between hepatitis and serum ferritin as well as aminotransferase levels. Early detection and early management of hepatitis B and C infections is warranted to minimize the occurrence of liver damage in thalassemia major patients.

Background & Aim: Improving the mental health of mothers of children with thalassemia major who experience great caregiving burden, requires an efficient supportive training to be developed and implemented. Therefore, this study aimed to determine the impact of a group supportive training on caregiving burden in the mothers of children with thalassemia major. Methods & Materials: A quasi-experimental study (IRCT2016122731612N1) was conducted on 80 mothers of children with thalassemia, referred to Aliasghar hospital in Zahedan in summer 2016. The mothers were selected through convenience sampling method and divided into two intervention and control groups of 40 each. The intervention group received four sessions of supportive training during four weeks. Data were collected by the Caregiver Burden Inventory. SPSS version 21 and independent t test, paired t-test and the analysis of covariance were used to analyze the data. Results: The mean score of caregiving burden before training in the intervention and control groups were respectively, 86.60±13.55 and 92.37±8.54 and declined to 59.62±9.90 and 89.57±5.83 after the intervention. Furthermore, The caregiving burden score in five dimensions including temporal, developmental, physical, social and emotional was significantly lower in the intervention group than in the control group (P

Background: Hearing disorders are reported in thalassemia patients treated with deferoxamine. This study aimed to assess hearing loss in Iranian thalassemia major patients treated with deferoxamine. Methods: This review article was designed based on PRISMA guidelines. To review the literature, two researchers studied national and international databases including Iranmedex, Magiran, Medlib, SID, Scopus, PubMed, Science Direct, Web of Science and Google Scholar without time limit until May 2017. Cochran's Q test and I2 index were used to assess the heterogeneity of the studies. The data were analyzed using Comprehensive Meta-Analysis software version 2 and p

Background: Cardiac complications due to iron overload are the most common cause of death in patients with thalassemia major. The aim of this study was to compare iron chelation effects of deferoxamine, deferasirox, and combination of deferoxamine and deferiprone on cardiac and liver iron load measured by T2* MRI. Methods: In this study, 108 patients with thalassemia major aged over 10 years who had iron overload in cardiac T2* MRI were studied in terms of iron chelators efficacy on the reduction of myocardial siderosis. The first group received deferoxamine, the second group only deferasirox, and the third group, a combination of deferoxamine and deferiprone. Myocardial iron was measured at baseline and 12 months later through T2* MRI technique. Results: The three groups were similar in terms of age, gender, ferritin level, and mean myocardial T2* at baseline. In the deferoxamine group, myocardial T2* was increased from 12.0±4.1 ms at baseline to 13.5±8.4 ms at 12 months (p=0.10). Significant improvement was observed in myocardial T2* of the deferasirox group (p

Background Hemolysis and repeated blood transfusions in children with thalassemia major cause iron overload in various organs, including the brain, and may lead to neurodegeneration. Hemolysis also causes decreased levels of nitric oxide, which serves as a volume transmitter and slow dynamic modulation, leading to cognitive impairment. Objective To assess for correlations between serum ferritin as well as nitric oxide levels and cognitive function in children with thalassemia major. Methods This analytical study with cross-sectional design on 40 hemosiderotic thalassemia major patients aged 6−14 years, was done at the Thalassemia Clinic in Dr. Hasan Sadikin Hospital, Bandung, West Java, from May to June 2015. Serum ferritin measurements were performed by an electrochemiluminescence immunoassay; serum nitric oxide was assayed by a colorimetric procedure based on Griess reaction; and cognitive function was assessed by the Wechsler Intelligence Scale for Children test. Statistical analysis was done using Spearman’s Rank correlation, with a significance value of 0.05. Results Abnormal values in verbal, performance, and full scale IQ were found in 35%, 57.5% and 57.5%, respectively. Serum nitric oxide level was significantly correlated with performance IQ (P=0.022), but not with verbal IQ (P=0.359) or full scale IQ (P=0.164). There were also no significant correlations between serum ferritin level and full scale, verbal, or performance IQ (P=0.377, 0.460, and 0.822, respectively). Conclusion Lower serum nitric oxide level is significantly correlated to lower cognitive function, specifically in the performance IQ category. However, serum ferritin level has no clear correlation with cognitive function.

Aziz Shahraki-vahed,1 Mohammadreza Firouzkouhi,1 Abdolghani Abdollahimohammad,1 Jamile Ghalgaie2 1Department of Medical Surgical, Faculty of Nursing and Midwifery, Zabol University of Medical Science, Zabol, Iran; 2Emam Khomeni Hospital, Zabol University of Medical Science, Zabol, Iran Introduction: Thalassemia is a chronic blood disease, which imposes adverse effects on patients and their families. Parents of such patients, given that they had the thalassemia trait, hold themselves responsible for their children’s disease in addition to other difficulties, bear the burden of guilt and hopelessness and worry about the health and future of their children. This study aimed to explore the lived experiences of parents of children with thalassemia. Methods: The present research was conducted using a descriptive phenomenological approach. A purposive sampling was carried out until data saturation. Participants included 15 parents of children with thalassemia who were referred to the Thalassemia Center of Zabol to perform therapeutic procedures for their child in 2016. Results: Extracted interviews were analyzed employing Colaizzi’s method, and four main themes were obtained, including “Gray marriage consanguinity”, “Burdened with increased number of thalassemia children”, “Socio-familial worries” and “Inexpressible wishes for having an ideal society”. Conclusion: The results revealed that parents of children with thalassemia experience a wide range of problems in different aspects, such as physical, emotional, mental, social, economic and familial dimensions. Their experiences are valuable and can help in achieving a better understanding of their problems, which in turn can enable the members of the treatment team to play a more active role and the society to have a better understanding of this disease. Keywords: descriptive phenomenology, lived experiences, thalassemia major, Colaizzi’s analysis approach

Background: Thalassemia is one of the most common genetic diseases in Iran with different physical and psychosocial consequences which affect these patients quality of life . Objectives: The purpose of this study was to investigate the effect of resilience training and stress management on the quality of life in patients with thalassemia major in Kerman-Iran. Methods: In this quasi-experimental study with pre-test and post-test design and a control group, 30 patients referred to Samen-al-Hojaj charity group, were selected by convenience sampling method and randomly divided into two experimental and control groups (each of 15 patients). After completing the pre-test, the experimental group received 10 sessions of training and stress management. Control group received no intervention. The data collection tool was the questionnaire of quality of life (SF-36). Data were analyzed by SPSS software using the covariance analysis. Results: The results of the covariance analysis in the studied variables indicate that the effect of the group (experimental intervention) on the post-test of physical function, general health, the role limitation for physical and emotional health were significant and respectively were (P=0.005 and F=11.22), (P=0.001 and F=16/02) and (P=0.049, F=4.3). However, the effect of the group on the post-test of role limitation for emotional reasons, physical pain, social function, and fatigue or vitality were not significant and respectively were (P=0.20 and F=1.741), (P=0.774 and F=0.085), (P=0.674 and F=0.183 ) and (P=0.288 and F=1.203). Conclusion: According to the results, based on the effectiveness of stress relief and management on some components of the quality of life in patients with thalassemia major, this study can be used to reach an effective solution to improve the quality of life and generally improve the mental status of patients.

ABSTRACT Introduction: In Iran, hepatitis C virus (HCV) is the most prevalent cause of chronic hepatitis and cirrhosis in patients with hemophilia, thalassemia, and renal failure. Recent studies suggest that patients infected with different HCV genotypes have different clinical profiles, severity of liver disease and response to therapy. Several molecular methods targeting different HCV genomic regions have been introduced for genotyping. Direct sequencing of amplified PCR products is the gold standard method, followed by phylogenetic analysis of clinical material. The aim of this study was to determine genotypes of HCV-infected patients with thalassemia in Golestan Province, Iran. Materials and Methods: This cross-sectional study included 217 patients (mean age: 21.82 ± 16 years, 50.7% male) with thalassemia major. Enzyme-linked immunosorbent assay (ELISA) was used for detection of HCV antibodies. Positive HCV-Ab samples were confirmed by reverse transcription polymerase chain reaction (RT-PCR) and sequencing. HCV genotypes were determined by aligning nucleotide sequences of patients with the standard nucleotide sequences obtained from GenBank (accession number: AB520610). Results: Of 217 patients with thalassemia major, 14 (6.45%) were found as anti-HCV-positive in the ELISA test. Among them, two patients (14.28%) had positive RT-PCR results. In addition, all patients were infected with HCV genotype 1a. Conclusions: Genotype 1a is the predominant HCV genotype in patients with thalassemia major in the Golestan province, Iran. KEYWORDS: Hepatitis C virus, Genotype, Thalassemia major, Golestan Province

OBJECTIVE: To determine the benefits of elective splenectomy in selected patients with thalassemia major. STUDY DESIGN: Prospective descriptive study. PLACE OF STUDY: Liaquat University Hospital Jamshoro. DURATION OF STUDY: July 2014 to June 2015. PATIENTS AND METHODS: 27 selected patients of Thalassemia major were evaluated after open elective splenectomy via midline incision for the benefits achieved post operatively. RESULTS: Out of 27 patients 19 (70.3%) were male and 08(29.6%) were female, age ranges from 5-10 years with a mean age of 7 years. Out of 27 patients, 25 patients (81.48%) had a uneventful recovery, only 2 patients (7.4%) developed post-operative complications. No mortality was observed in this series. Post-operative long term maintenance of adequate hemoglobin and improved quality of life was observed in 26(96.29%) patients. Only 1(3.7%) patient who developed postoperative incisional hernia was not satisfied with the procedure. CONCLUSION: We conclude that splenectomy is a safe and beneficial procedure in selected patients of thalassemia major.

Aim The aim of this study was to evaluate the fundus changes in thalassemic patients in Giza and Fayoum Governorates. Patients and methods Thirty thalassemic patients recruited from the Pediatric Hematology Clinic in Fayoum University Hospital, Misr University Hospital, and NILES Pediatric Clinic were included in the present study. All patients underwent complete ophthalmic examination and laboratory investigations. Results The mean age was 10.7±5.9 (6–36) years. There were 20 male patients (66.7%), with a mean duration of disease of 7.1±7.1 years (3 months to 36 years). Patients were classified on the basis of hemoglobin (Hb) level into two groups: 7 g/dl or less (thalassemia major) and greater than 7 g/dl (thalassemia intermediate and thalassemia minor). There was a significant correlation between cup/disc (C/D) ratio and Hb level (P

Pulmonary arterial hypertension (PAH) is a progressive disease with high morbidity and mortality rates. Research has shown that PAH has a prevalence rate of 10-79% in thalassemia major patients. This cross-sectional study was carried out in 2014 to determine the prevalence and risk factors of PAH in all thalassemia major patients of over 18 years of age in Ilam, Iran. A cardiologist measured systolic pulmonary artery pressure (SPAP) by using Doppler echocardiography. SPAP of higher than 25 mm Hg was defined as PAH criterion. The obtained data was analyzed using SPSS, version 17. Of the 36 studied patients, 17 (47.2%) were male and 19 (52.8%) were female. The mean age of the patients was 26.0±5.6 years. The prevalence of PAH in the thalassemia major patients was estimated to be 47.2% and the mean SPAP was determined to be 26.2±14.6 mm Hg. Among the examined PAH risk factors, only the history of pulmonary disease (0.02) and transfusion (0.03) was found to be significant.

Background: Thalassemias constitute a group of chronic, inherited anemias that are transfusion dependent. Cardiac disease as a result of transfusional iron overload remains as the principal cause of death in these patients even though there have been lots of improvements in iron chelation therapy during the past 25 years. For this reason, it is recommended that regular cardiac evaluation should be done for all patients with thalassemia major. Objective: The present study was conducted with the primary objective to investigate the left ventricular (LV) myocardial function using conventional echocardiographic measures as well as two-dimensional (2D) speckle tracking in patients with beta-thalassemia major who received regular transfusions and chelation therapy. Methodology: This prospective observational study was conducted in the Department of Paediatrics, Sir Jamshedji Jeejeebhoy Group of Hospitals, Mumbai, over a period of 6 months from February 2012 to July 2012. The study comprised 25 consecutive cases of beta-thalassemia major who were diagnosed on the basis of hemoglobin electrophoresis and 25 controls with normal hemoglobin electrophoresis pattern. Patients with any congenital or acquired heart disease and also patients with heart disease of infectious, metabolic, autoimmune etiology were excluded from the study. 2D, M-mode, Doppler, and longitudinal speckle tracking echocardiographic assessment was performed in all the study cases and controls. Results: The mean age of beta-thalassemia group was 7.02 ± 3.00 years whereas the control group was 5.06 ± 3.62 years. The mean hemoglobin was 5.54 ± 1.30 g/dl in beta-thalassemia patients and 10.96 ± 1.36 g/dl in controls (P < 0.001). The thalassemia patients had lower LV ejection fraction (EF) (62.20 ± 7.93% vs. 66.40 ± 1.19%, P < 0.001) and lower global longitudinal strain (GLS) (−21.73 ± 3.68% vs. −26.80 ± 1.29%, P < 0.001) as compared to the controls. The age of the child, hemoglobin level, and serum ferritin level correlated with the LVEF and GLS. Conclusions: LV systolic dysfunction is common in patients with beta-thalassemia major. This is likely to be a consequence of chronic anemia as well as transfusional iron load, compounded by poor compliance to chelation therapy and sometimes nonavailability of proper cardiac monitoring. These findings suggest that even in young children with beta-thalassemia major, who are asymptomatic, serial echocardiography is warranted to permit early recognition of LV systolic dysfunction and timely initiation of appropriate cardioprotective therapy.

Background/Hypothesis: Creeping monotony in the treatment provides minimal motivation for children with beta-thalassemia major, leading to noncompliance for adequate blood transfusions and iron chelation therapy. This study was envisaged to formulate a clinical compliance score and correlate the score with their linear growth velocity and weight gain. Materials and Methods: A prospective longitudinal study among 30 thalassemia children aged between 1 and 18 years was conducted in the Department of Pediatrics, Tata Main Hospital (TMH), Jamshedpur, from July 2012 to January 2014. Relevant clinical information and investigations were recorded using a predesigned pro forma. Compliance score was calculated using pre-, post-transfusion hemoglobin and serum ferritin levels. The height velocity and weight gain were calculated. The same patients were re-assessed in January 2015. Results and Discussion: Mean age of children was 10.18 ± 4.98 years. Forty percent were females. Using the scoring table, 33% were in good category of compliance while 4% had poor compliance. The mean height velocity was significantly higher in good compliance category as compared to average or poor score category in 2014 (P = 0.017). Good compliance score children continued to maintain higher height velocity during the 1-year follow-up (P = 0.02). Average weight gain was higher in good compliance category. Conclusion: This paper brings out a simple, regularly monitored scoring system to promote growth in thalassemia children through improved compliance to treatment, which incentivized them to maintain or improve their scores for better height velocity and weight gain. No such compliance score has been tabulated for thalassemia patients as of date.

Background: Pneumococcal vaccine provides protection against invasive pneumococcal disease in population at risk. This study was conducted to compare the antibody response to 13-valent pneumococcal conjugate vaccine and 23-valent pneumococcal polysaccharide vaccine in patients with thalassemia major. Methods: A randomized cross-over clinical trial was performed on 50 asplenic patients with thalassemia major who referred to thalassemia center at Bouali Sina Hospital, Sari, Iran from 2013 to 2014. Patients were divided into two equal groups. The first group received 13-valent pneumococcal conjugate vaccine (PCV) injected into the deltoid muscle at first and received 23-valent polysaccharide vaccine (PPV) by the same way two months later. The second group received PPV vaccine at first and PCV13 two months later. Levels of serum antibody were checked and measured by enzyme-linked immunosorbent assay (ELISA) before vaccination, and then 8 weeks after the first injection and 2 months after the second injection in all patients. Each time 0.5-ml dose of the vaccine was injected. Results: Of the 50 patients, three cases were excluded due to lack of cooperation and avoidance of vaccination. From 47 patient participants, 28 (59.6%) were males and 19 (40.4%) were females with age ranged between 20 to 44 years (average age of 29.6±1.4 years). Pneumococcal IgG levels in a group that used PCV before PPV (Group A) increased from 114.5±87.7 to 1049±720 U/ml (p=0.0001) and in another group that used PPV before PCV (Group B) increased from 115±182.2 to 1497.3±920.3 U/ml (P=0.0001). Conclusion: It can be concluded that PCV vaccine before PPV can be more effective in asplenic thalassemia major patients as a booster dose.

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. [ABSTRACT FROM AUTHOR]

Aim: To determine whether the biomicroscopic, topographic and biomechanical properties of the anterior segment and the tear function have changed in Thalassemia Major (TM) patients. Material and Methods: Eighty-eight eyes of patients with TM and 102 eyes of healthy controls paired with age, gender, and spherical equivalent were included in this cross-sectional case-control study. Biomicroscopic, topographic and biomechanical findings of anterior segment and Schirmer test measurements were compared between the two groups. Results: The mean age was found to be 15.11±6.01years in TM group, and 13.83±4.92 years in the control group (p=0.17). In 34 (38.63%) patients with TM, minor peripheral lens opacities were detected. Visual acuity was 20/20 in all patients with lens opacity. The mean iridocorneal angle (ICA) was 44.67±5.86 and the topographic anterior chamber depth (ACD) was 3.65±0.28 mm in the TM patients. Mean ICA was 48.78 ± 6.51 and topographic ACD was 3.76±0.30 mm in the control group (p<0.001 and P=0.02 respectively). The mean Schirmer test result was 14.06±4.13 mm in patients with TM and 16.2±3.75 mm in the control group (p=0.001). Conclusion: In contrast to previous literature, we did not found any vision decreasing complications in the TM group. Although peripheral lenticular opacities were detected in some of the patients with TM, none of the patients had an anterior segment finding that could reduce visual acuity. Intraocular lens calculation formulas and surgical technique may be affected due to decreased ICA and ACD values in patients with TM. [ABSTRACT FROM AUTHOR]

• Granulocyte colony-stimulating factor-mobilized blood and bone marrow graft transplantation proved to be an effective approach to treating thalassemia major. • Antithymocyte globulin- and fludarabine-containing myeloablative conditioning regimens were associated with low rates of graft-versus-host disease and graft rejection. • Close chimerism monitoring and early intervention effectively prevented graft rejection. As an inherited anemia, thalassemia major (TM) is currently only curable with allogeneic hematopoietic stem cell transplantation (allo-HSCT). Here we report an allo-HSCT protocol for patients with TM who received a combination of granulocyte colony-stimulating factor-primed bone marrow and peripheral blood stem cells (G-BM & PBSCs) from a matched sibling donor (MSD). The conditioning regimen consisted of i.v. busulfan, cyclophosphamide, fludarabine, and antithymocyte globulin. Chimerism analysis was performed for all patients. Immunosuppressive treatment was terminated if rejection was suspected, and donor lymphocyte infusion was administered once no response was observed. A total of 184 patients with TM were enrolled in the study between July 2007 and July 2018. The cumulative incidence of grade II-IV acute graft-versus-host disease (GVHD) was 13.1%, and that of moderate or severe chronic GVHD was 5.7%. The cumulative incidence of graft rejection was.6%. In the total cohort, the 3-year overall survival, thalassemia-free survival, and GVHD-free, relapse-free survival were 97.8%, 97.3%, and 89.5%, respectively. Collectively, our results indicate that G-BM & PBSCs from an MSD is be a good stem cell source for patients with TM undergoing allo-HSCT. [ABSTRACT FROM AUTHOR]

Aim: To determine liver dysfunction and growth in transfusion-dependent beta-thalassemia children of age 2-16 years with iron overload state. Methods: Forty-one children aged 2-16 years with transfusion-dependent beta-thalassemia who were on chelation therapy with oral iron chelator deferasirox for at least 1 year were included in the study. Serum ferritin, growth assessment and liver function tests (LFT) were measured and correlated. Stunting was defined as low height for age (HFA). According to the World Health Organization (WHO), HFA between -2SD to -3SD was defined as moderate stunting and HFA less than -3SD as severe stunting. Spearmen correlation coefficient was used for finding out a correlation among different variables. Multiple linear regression was carried out to estimate the relationship between serum ferritin level, transfusion rate per year, age, sex and HFA status of thalassemia children. Results: Out of 41 children, 25 (60%) patients were in the age group of 5-10 years and the overall median age of the patients was 8 years. The overall median rate of blood transfusion was 12.3 per year and median ferritin levels were 3863 ng/ml (95% CI 2781-4860). There was a significant relationship between ferritin level and transfusion rate per year (p=0.048). The median aspartate aminotransferase (AST) was 51 IU/L (95% CI 43-66), alanine aminotransferase (ALT) 45 IU/L (95% CI 31-58). There was a significant relationship between ferritin level and AST, ALT levels (p<0.005) with correlation coefficient 0.31 and 0.55 respectively. AST and ALT levels were rising as the serum ferritin was increasing and after the level of 3000 ng/ml, there was a steep rise. Moderate stunting was seen in 9 (23%) patients with median ferritin level of 3452 ng/ml (95% CI 370-4992), severe stunting was present in 14 (34%) patients with median ferritin level of 4432 ng/ml (95% CI 2781 -4860) and normal height was seen in 18 (44%) cases with median ferritin level of 3992 ng/ml (95% CI 1904-4862) (p=0.4). Conclusion: High serum ferritin levels in beta-thalassemia are associated with hepatic dysfunction. Hence liver functions should be monitored frequently in patients with beta-thalassemia major. In our study, we found many children with stunting, but stunting is not affected by iron overload states. [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study was to determine whether quercetin can reduce iron overload and inflammation in thalassemic patients.Methods: Eighty four patients were recruited to this study and randomly assigned to two groups: 42 patients received a 500 mg/day quercetin tablet and 42 others took a 500 mg/day starch placebo for 12 weeks. Demographic, anthropometric and biochemical evaluation were performed.Results: ANCOVA analysis revealed that compared to the control group, quercetin could reduce high sensitivity C-reactive protein (hs-CRP) (P = 0.046), iron (p = 0.036), ferritin (p = 0.043), and transferrin saturation (TS) (p = 0.008) and increase transferrin (p = 0.045) significantly, but it had no significant effect on total iron binding capacity (TIBC) (p = 0.734) and tumor necrosis factor α (TNF-α) (p = 0.310).Conclusions: Quercetin could ameliorate the iron status in thalassemia major, but its effect on inflammation is indistinctive. [ABSTRACT FROM AUTHOR]

Repeated blood transfusions is the mainstay of treatment for beta thalassemia major patients. Multiple blood transfusions lead to significant iron overload in these patients. Iron overload causes liberation of oxygen free radicals and peroxidative lipid injury. This study has been designed to study whether thalassemics suffer from oxidative injury. It also aims to study the quantum of oxidative injury. It is a cross sectional study using cases and controls. Thirty thalassemic patients receiving multiple blood transfusions were included in this study and thirty healthy age and sex matched controls were recruited for the study. Serum ferritin levels, malondialdehyde, nitric oxide levels were estimated. Levels of all the three parameters were significantly increased (p < 0.05) in the cases compared to controls. Mean levels of all three parameters were correlated with serum ferritin levels and number of blood transfusions in increasing order. All the parameters showed fair degree of correlation (r ≥ 0.25, p ≤ 0.05). Thalassemic patients receiving multiple blood transfusion suffer from iron overload which results in increased oxidative stress. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

In patients with thalassemia major, examination routinely used for the evaluation of iron load in Indonesia is serum ferritin, but it is strongly influenced by other factors such as infections, inflammation and vitamin C levels. Evaluation of urinary iron excretion is an important and easy method to indicate iron chelation efficacy. To determine the efficacy of iron chelation therapy by urinary iron examination and to evaluate its correlation with the time of transfusion, serum ferritin level, transferrin saturation and T2* MRI. Prospective cohort study was conducted in children with thalassemia major aged 7–<18 years old who received DFP therapy. Twenty-four-hour urine collections were examined through inductively coupled plasma – mass spectrometry (ICP-MS). Patient's serum ferritin, transferrin saturation, peripheral blood, differential count and T2* MRI was documented during the study. Data analysis is based on urine iron level, body iron balance and the correlation between urine iron level, serum ferritin, transferrin saturation and T2* MRI and dosage of DFP. Thirty (55%) subjects showed a higher urine iron level on the day prior to transfusion (mean: 12,828 SD ±12,801 μg/24 h) in comparison to post transfusion (mean: 10,985 SD ±10,023 μg/24 h). All subjects had positive iron balance (mean 524 SD ±230 mg). There were positive correlation between urine iron level and transferrin saturation (r = 0.559, p = 0.01) and serum ferritin (r = 0.291, p = 0.03), no correlation found with T2* MRI results. There is a relationship to urinary iron excretion in response to chelation therapy and the degree of iron load. [ABSTRACT FROM AUTHOR]

Purpose: Hypoxic or ischemic diseases can cause a deterioration in the structure of the retina and choroid. The aim of the study was to evaluate whether there are differences in subfoveal choroidal thickness (SCT), central foveal thickness (CFT), peripapillary retinal nerve fiber layer (RNFL) thickness and ganglion cell complex (GCC) thickness of patients with beta thalassemia major (ß-TM) receiving deferasirox treatment. Materials and Methods: The study included 35 patients with ß-TM and 35 age and sex matched healthy children as a control group. The age interval for both groups was 6-18 years. SCT, CFT, RNFL and GCC thickness were measured by spectral domain optical coherence tomography (SD-OCT) compared with control group. Serum iron (Fe), ferritin and hemoglobin (Hb) levels were recorded. Results: There was no statistically significant difference in age, visual acuity, refraction error, the intraocular pressure between the groups. The mean superior GCC value was 99,1±2,26 µm, inferior GCC was 102,87±3,06 µm in the thalassemia group. In the control group, it was 132,77±4,22 µm and 130,03±3,61 µm respectively (p<0,001). The mean SCT and peripapillary RNFL thickness were significantly lower in patients with ß-TM than in the healthy controls (p<0,001) (p<0,05). Conclusion: In patients with thalassemia major, there is a decrease in GCC thickness in addition to SCT and RNFL thickness. This result may have occurred as a result of the disease itself, or the side effect of deferasirox. Presence of severe anemia, hypoxia and excessive iron in ß-TM can disrupt the structure of the RNFL and GCC layer that leads to neurodegeneration. [ABSTRACT FROM AUTHOR]

• Patients with Thalassemia Major (TM) had increased gingival inflammation scores compared to systemically healthy controls. • Patients with TM require adequate oral hygiene instructions and motivation. • Conduction of well-designed observational studies including statement of checklist for transparent reporting is needed. The aim of this systematic review was to evaluate the existing evidence on the association between Thalassemia major (TM) and periodontal condition. MEDLINE via OVID, EMBASE, and The Cochrane Database (including the Central Register of Controlled Trials (CENTER)), were searched up to September 2018 to identify observational studies eligible for systematic review and meta-analyses. Newcastle-Ottawa Scale (NOS) was used for quality assessment. The initial search resulted in 172 articles, and of these, 16 articles were included and a qualitative synthesis was carried out. Based on the quantitative data from 14 studies, significant differences were found in gingival index (GI) (p < 0.001), bleeding on probing (p = 0.02) as well as plaque index (PI) (p < 0.01) measures between TM and systemically healthy controls. Additional analyses (young vs. adult) for GI and PI revealed that such significant differences were only observed in adults, even though overall analysis showed no subgroup effect. The majority of the studies qualified as "intermediate quality". Patients with TM had significantly higher gingival inflammation scores compared to controls. Therefore, routine comprehensive periodontal screening in TM is recommended in order to prevent occurrence of periodontal diseases and eventually reduce the complexity of the oral health care. Also, conduction of further well-designed observational studies is recommended to contribute to this topic. [ABSTRACT FROM AUTHOR]

Summary: Objectives: To assess current knowledge of National Heart, Lung and Blood Institutes (NHLBI) and Thalassemia International Federation (TIF) recommendations, blood banking practices and perceived challenges among transfusion services in the management of patients with haemoglobinopathies. Background: Previous reports have demonstrated variations in transfusion practices for sickle cell disease (SCD) and thalassemia patients. Recently, NHLBI/TIF have provided transfusion recommendations for patients with haemoglobinopathies. Methods: A cross‐sectional survey was conducted of transfusion services from the state of Georgia previously identified as having SCD/thalassemia populations. The survey assessed transfusion service practices in pre‐transfusion testing and blood product selection; awareness/implementation of NHLBI/TIF transfusion‐based recommendations and perceived challenges in transfusing haemoglobinopathy patients. Results: Responses were received from 35 of 49 (71%) institutions. Only institutions indicating transfusing SCD or thalassemia patients (32) were included in analysis. Seventy‐one percent of non‐sickle cell treatment centres (SCTCs) and 20% of non‐thalassemia treatment centres follow NHLBI and TIF recommendations to perform a red blood cell phenotype beyond ABO/Rh(D) and provide Rh and Kell prophylactically matched units for SCD and thalassemia patients, respectively. Forty percent of institutions (33% of non‐SCTCs) employ RBC genotyping to evaluate the red cell phenotype for SCD patients. Over 77% of institutions do not utilise a reliable method to identify SCD patients prior to transfusion, such as a required question/answer field on type/screen or crossmatch orders. Conclusion: Many healthcare systems' transfusion practices for haemoglobinopathy patients are discordant with NHLBI/TIF recommendations. Efforts are needed to increase awareness and implementation of current recommendations among all transfusion services seeing these patients. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

This study explored patients' experiences and perceptions of living with thalassemia (an inherited hematologic disorder), perceptions of social stigma, and impact on disclosure decision‐making. Semistructured, in‐person interviews were conducted in Singapore with 30 individuals: 16 thalassemia major patients and 14 parents of children with thalassemia. Findings were indicative of felt or enacted stigma that may have influenced disclosure decisions. Although affected individuals commonly disclosed their thalassemia diagnosis to family members, they either downplayed the condition with or avoided disclosure to unrelated individuals. Disclosure outside the family occurred only in response to triggers, such as questions about absences due to medical care. Health professionals should provide anticipatory guidance about disclosure strategies when managing individuals with thalassemia. [ABSTRACT FROM AUTHOR]

Background and aims: The present study aimed to determine the effect of acceptance and commitment therapy on perceived stress, resilience, and the quality of life in thalassemia major patients in Lordegan during 2015-2016. Methods: This semi-experimental study used the pre-test and post-test designs with a control group and period. The samples included 40 patients with thalassemia major who referred to Lordegan Shohada hospital, were selected by the purposeful sampling technique based on the inclusion and exclusion criteria, and were randomly assigned to experimental and control groups. The experimental group received eight-week sessions of the acceptance and commitment-based therapy, while the control group received no intervention until the end of the study. The data were collected by the perceived stress questionnaire (Cohen et al), Researcher Conner and Davison Resilience Scale, and the World Health Organization Quality of Life (SF-26). Finally, the obtained data were analyzed using the SPSS software, repeated measure, and covariance tests Results: The results showed that there was a significant difference between the experimental and control groups in terms of the perceived stress, resilience, and the quality of life (P < 0.001). In addition, based on the results, 66% of the changes in the perceived stress scores, 81% of the difference in the resiliency scores, and 75% of the difference in the quality of life scores were related to the impact of therapy based on the acceptance and group commitment. Further, the results of the analysis variance of the internal group revealed that the effect of therapy based on the acceptance and commitment on the perceived stress, resilience, and the quality of life had a significant difference in pretest, posttest, and follow-up stages. Conclusion: In general, the therapy based on the acceptance and commitment is found to be a useful practice in reducing the perceived stress while increasing the resilience and improving the quality of life in patients with thalassemia major. [ABSTRACT FROM AUTHOR]

Abstract Background and aims Direct antiviral agents (DAAs) have revolutionised the standard of care for the treatment of hepatitis even in patients with hemoglobinopathies. The aim of this study is to show how, thanks to DAAs, HCV infection has been substantially eradicated in one of the biggest Centres for the management of Thalassemia in Europe. Methods Thalassemia major patients regularly transfused and iron chelated in Cagliari (Italy) who were HCV-RNA positive were evaluated for the potential prescription of antiviral therapy. Results A total of 99 patients, 26 of whom had been diagnosed with cirrhosis, were treated with at least one dose of DAAs, which proved to be safe and well tolerated. Two of the patients died during the treatment after becoming HCV-RNA negative while another voluntarily interrupted the therapy. The final SVR in the patients who completed the treatment was 100%, while measuring 97% (96/99) in the Intention-to-Treat analysis. After DAAs, no new cases of hepatocellular carcinoma have been reported. Conclusions The use of DAAs in patients suffering from beta-Thalassemia major with chronic hepatitis C or cirrhosis can be considered safe and effective. Close monitoring for hepatocellular carcinoma development is, in any case, recommended indefinitely post-SVR. [ABSTRACT FROM AUTHOR]

Labile plasma iron (LPI) levels are proposed as marker of iron overload in thalassemia patients and are also known to be the earliest parameter to indicate efficacy of chelation therapy. It was a prospective study in 35 patients of thalassemia major. Patients were recruited in two groups—group A (n = 13) patients not on chelation therapy and group B (n = 22) patients who were on regular oral chelation therapy. Ten age and gender matched healthy controls were also studied. For all patients, ferritin levels and LPI levels were measured at baseline, 6 months and 12 months. For group B patients paired samples for LPI were taken (before and 2 h after chelator). LPI levels were found to be significantly higher in group B patients versus group A patients versus normal healthy controls at all time-points. (P value—< 0.0001, 0.001) In group A, both LPI levels and ferritin levels follow an upward trend and correlated well with each other (P value—< 0.0001). In group B, the serum ferritin trend was not significant over follow up period of 1 year (P value 0.16), however LPI levels showed a significant decreasing trend on continued chelation (P value 0.0347) In patients on chelation therapy, the immediate change (2 h) in LPI levels on administration of chelators was not found to be significant (P value 0.22). LPI assay appears potentially attractive alternate to serum ferritin and can serve to monitor the trend of iron overload during long-term follow up. [ABSTRACT FROM AUTHOR]

Abstract Most cells in the body acquire iron via receptor-mediated endocytosis of transferrin, the circulating iron transport protein. When cellular iron levels are sufficient, the uptake of transferrin decreases to limit further iron assimilation and prevent excessive iron accumulation. In iron overload conditions, such as hereditary hemochromatosis and thalassemia major, unregulated iron entry into the plasma overwhelms the carrying capacity of transferrin, resulting in non-transferrin-bound iron (NTBI), a redox-active, potentially toxic form of iron. Plasma NTBI is rapidly cleared from the circulation primarily by the liver and other organs (e.g., pancreas, heart, and pituitary) where it contributes significantly to tissue iron overload and related pathology. While NTBI is usually not detectable in the plasma of healthy individuals, it does appear to be a normal constituent of brain interstitial fluid and therefore likely serves as an important source of iron for most cell types in the CNS. A growing body of literature indicates that NTBI uptake is mediated by non-transferrin-bound iron transporters such as ZIP14, L-type and T-type calcium channels, DMT1, ZIP8, and TRPC6. This review provides an overview of NTBI uptake by various tissues and cells and summarizes the evidence for and against the roles of individual transporters in this process. Graphical abstract fx1 Highlights • Non-transferrin-bound iron (NTBI) appears in the plasma in iron overload. • NTBI is a major contributor to pathological iron loading of various tissues. • Tissue uptake of NTBI is mediated by plasma membrane transporters. • NTBI transporters include ZIP14, LTCCs, TTCCs, DMT1, ZIP8, and TRPC6. • NTBI transporters function in a cell-type and tissue-specific manner. [ABSTRACT FROM AUTHOR]

Objective: To assess the sociodemographic factors affecting parental knowledge regarding availability of screening services for thalassemia major. Methods: A cross sectional study was conducted among biological parents of thalassemic children at three registered centers of blood transfusion in Lahore. A sample of 186 parents was selected through systematic random sampling. A pretested questionnaire was used to collect data. IRB clearance was obtained and informed consent was taken before data collection. Data was analyzed at SPSS version 23 and chi square test was applied and p value was fixed at ≤ 0.05 as significant. Results: Parents of registered thalassemic children have adequate knowledge about Disease transmission and screening services. 91% of the participants knew that thalassemia major gets transmitted through parents. Cousin marriage was mentioned as a source of transmission by 77% of the participants. 91% of the parents knew about prenatal screening and 89% about premarital screening. Knowledge of parents was significantly associated with male gender, higher education and income. Conclusion: Male gender, higher education and income are associated with better knowledge of parents. [ABSTRACT FROM AUTHOR]

Background Septic shock remains a major cause of mortality 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, pre-transfusion hemoglobin, thyroid, as well as alanine transaminase levels. 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 (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 <8 g/dL (β=-0.090; 95%CI -0.002 to 0.182; P=0.056) and undernutrition (β=0.077; 95%CI 0.045 to 0.109; P<0.001). Conclusion Low pre-transfusion hemoglobin level and undernutrition are significantly correlated to low IGF-1 level in children with thalassemia major. [ABSTRACT FROM AUTHOR]

Highlights • The aim of this study was to evaluate the pros and cons of using peripheral blood instead of bone marrow as the graft source in thalassemia transplantation. • The survival advantage for bone marrow compared with peripheral blood was not significant. • Rejection incidence was significantly lower in patients who used peripheral blood as their graft source. • Acute and chronic graft-versus-host disease were more frequent in peripheral blood transplants, but the difference was not statistically significant. • Peripheral blood could be the preferred stem cell source in patients undergoing allogeneic stem cell transplantation for thalassemia. Abstract Allogeneic hematopoietic stem cell transplantation (HSCT) currently is the only available curative option for transfusion-dependent thalassemia. Peripheral blood is a more convenient source for HSCT in comparison with bone marrow. Information about the relative success of transplantation with these 2 graft sources would help physicians and patients choose between them. The aim of this study was to evaluate the pros and cons of using peripheral blood instead of bone marrow as the graft source in thalassemia transplantation. We analyzed the transplant results of 567 transfusion-dependent thalassemia patients who received a transplant between 1998 and 2015 considering their stem cell source as a comparative variable. In multivariate Cox analysis the survival advantage for bone marrow compared with peripheral blood was not significant after adjusting for sex, age, and hepatic fibrosis presence. Rejection incidence was significantly lower in patients who used peripheral blood as their graft source. Acute and chronic graft-versus-host disease were more frequent in peripheral blood transplants, but the difference was not statistically significant. This study shows that peripheral blood could be an alternative stem cell source in patients undergoing allogeneic HSCT for thalassemia. [ABSTRACT FROM AUTHOR]