Thalassemia Research Articles

A Rare Case of Compound Heterozygous Sickle Cell Beta Thalassaemia with High HbF and Normal HbA2 Levels Detected on HPLC

Compound heterozygous Sickle Haemoglobin (HbS) beta (β) thalassaemia arises from the mutations associated with sickle cell and β thalassaemia and significantly affects populations in low income countries like India. Elevated levels of Haemoglobin A2 (HbA2) represent the primary indicator for identifying carriers of β thalassaemia. However, it’s worth noting that sometimes, High Performance Liquid Chromatography (HPLC) encounters challenges in confirming a final diagnosis when levels of HbA2 and HbS fall outside the diagnostic range. A nine-year-old male and his sister 11-year-old female patient presented with high-grade fever and jaundice since two weeks. Following admission, Complete Blood Count (CBC) and HPLC of both children were done. Hb of male and female child revealed 1.8 g/dL and 1.5 g/dL, respectively. HPLC of male child revealed Haemoglobin F (HbF) 27.4%, HbS 56.3%, HbA2 3.8% and of female child revealed HbF 39.2%, HbS 43.5%, HbA2 3%. HPLC reports of both children were suggestive of differential of compound heterozygous HbS β thalassaemia and HbS homozygous. Later, HPLC of their parents was also done. HPLC of father was suggestive of thalassaemia trait and of mother suggestive of sickle cell trait, following which final diagnosis of both children was given as compound heterozygous HbS β thalassaemia. Diagnosing these compound heterozygous haemoglobinopathies can be challenging. As their is resemblance in clinicopathological features of sickle cell anaemia and β thalassaemia disorders, it is important to carefully differentiate between them although prognosis is better than thalassaemia major or sickle cell anaemia.

Differential diagnosis of iron deficiency anemia and beta thalassemia in Port Harcourt pregnant women using the Mentzer Index

Differential diagnosis of iron deficiency anemia and beta thalassemia in Port Harcourt pregnant women using the Mentzer Index

Clinical Insights: Prevalence of β-Thalassemia Mutations (IVSI-5, FSC8/9, and CD41/42) in the Swat District

Background: Thalassemia is a prevalent condition characterized by decreased production or absence of hemoglobin globin chains. There are 2 types of thalassemia, alpha thalassemia and beta thalassemia (β-thalassemia), classified according to defects in the alpha or beta protein chain. β-Thalassemia results from a diverse range of mutations in the β subunit of the hemoglobin gene (HBB). This results in severe reductions in erythrocyte and hemoglobin levels. Worldwide, more than 40,000 babies are born with β-thalassemia annually. There are approximately 80 million β-thalassemia carriers. In Pakistan, the annual birth rate of β-thalassemia major carriers is approximately 6,000, and 50,000 to 100,000 patients suffer from this common inherited disorder. IVSI-1, IVSI-5 (G>C), Fr 8/9 (+G), Fr 41/42 (-TTCT), and del 619 are the 5 most common mutations that account for 90% of β-thalassemia cases in Pakistan. This study aimed to investigate the prevalence of β-thalassemia mutations (IVSI-5, Fr 41/42, and Fr 8/9) in the Swat district and to analyze the blood morphology of different mutant thalassemia blood samples. Methods: A cross-sectional study was performed at the Forensic Research Lab University of Swat from December 2021 to March 2022. The study included a total of 150 blood samples. Comparative analysis of blood morphology through microscopy was carried out on samples from patients with different β-thalassemia mutations and normal individuals. Genomic DNA extraction was performed according to the Sambrook protocol, and DNA was quantified via agarose gel electrophoresis. Thalassemia mutations were detected by amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR). The frequencies of different β-thalassemia mutations were analyzed. Results: Thalassemia blood cells were more hypochromic and microcytic than normal blood cells, although no differences were detected in the morphology of IVSI-5, Fr 8/9, or CD41/42 mutant blood cells. The IVSI-5, Fr 8/9, and CD41/42 mutations were analyzed through agarose gel electrophoresis of the ARMS-PCR data. The IVSI-5 mutation was the most prevalent mutation, identified in 52.2% (78/150) of the patients. The prevalence of Fr 8/9 and CD41/42 mutations was 22.6% (34/150) and 18.6% (28/150), respectively. A total of 5.33% (8/150) of patients had double mutations, and only 1 patient (0.666%) had all 3 mutations. Conclusion: This study provides a reliable reference for the detection of different mutations in β-thalassemia and will help to formulate different strategies for improving the awareness of the general public. For a more thorough analysis of common β-thalassemia mutations, the investigation should be extended to more ethnic regions of Pakistan.

Hematemesis in a child with beta thalassemia

Hematemesis in a child with beta thalassemia

Beta and Alpha thalassemia demographic map in Baghdad

Beta and Alpha thalassemia demographic map in Baghdad

Beta and Alpha thalassemia demographic map in Baghdad

Beta and Alpha thalassemia demographic map in Baghdad

Iron depletion and quality of life of thalassemia patients

Introduction: Hemodialysis is a serious consequence of transfusions in the treatment of b-thalassemia major. Iron depletion burdens the psychology of patients and due to the complexity and long process can be abandoned as a treatment. Aim: To study the perceptions and limitations experienced by patients undergoing iron depletion, as well as the psychological effects. Methodology: The study was conducted in the Mediterranean Anemia Unit of Evaggelismos Hospital. The study included patients with b-Mediterranean anemia, who were informed about the purpose of the study and gave signed consent. The research is a qualitative study with semi-structured interviews. Results: The analysis of 70 patient interviews (32 men - 38 women) showed that the majority of patients (54 participants) are regular in iron depletion therapy, as they find that it improves survival expectancy. Six participants are not regular, as they feel that it limits them significantly, while the rest try to be regular, as they recognize its benefits. 41 participants have a positive attitude towards treatment, of which 13 state that treatment improves their quality of life, while the remaining 29 have a negative attitude towards treatment. Regarding the existence of a supportive environment, 47 participants state that they have a supportive family environment, while 11 participants state that they hide from the family environment and 12 participants have experienced or are still experiencing the stigma due to the disease. Conclusions: It is important to facilitate patients with iron depletion treatments, which do not limit their daily life. Also, the psychological support of patients with thalassemia is important, so that they overcome the obstacles of the disease and live a life with fewer obstacles

A scoping review on the obstacles faced by beta thalassemia major patients in Pakistan- Matter of policy investment

<p>Beta-thalassemia major (β-TM) is a genetic disorder, prevalent especially in the Mediterranean region, Southeast Asia, and the Indian subcontinent. With improvements in management over the years, β-TM has transitioned from a fatal childhood disease to a chronic condition. However, in Pakistan, there is still a lack of a comprehensive national policy and strategic plan, which has resulted in a growing number of β-TM patients, placing a substantial burden on individuals and the national healthcare system. This scoping review is aimed to understand obstacles faced by β-TM patients in Pakistan. For this review, 26 unique articles were identified by using the PRISMA flow guidelines. PubMed and Google Scholar were used with the MESH term Beta-Thalassemia Major AND Pakistan, and the duration was set between 2012–2022. Then, the reviewers created a spreadsheet using Microsoft Excel to add in the data from the studies selected. Inductive and deductive approaches were used for thematic analysis. Additionally, we critically analyzed the current landscape of β-TM in Pakistan. The main challenges in β-TM care in Pakistan are suboptimal transfusion services and a poor complication management. Due to the need of chronic blood transfusions, transfusion-transmitted infection (TTI) incidence within this patient population is high. These largely include hepatitis C, hepatitis B, and the Human immunodeficiency virus (HIV). TTIs impact the quality of life of these patients and their overall survival. Furthermore, psychosocial morbidities are also prevalent in β-TM patients, with increased levels of hostility, anxiety, and depressive symptoms, thus emphasizing the critical need for sustained psychological support. Access to quality treatments is constrained, with notable disparities between public and private sector hospitals. Additionally, the financial burden on β-TM patients is considerable, which contributes to economic strain and more hardships on the already suffering families. The review concludes that the absence of a unified national policy exacerbates these challenges, which results in an escalating burden of β-TM nationwide. To address these issues, essential recommendations include the following: the implementation of a standardized protocol for β-TM care, the enhancement of access to quality care, the provision of iron chelation therapy, and safeguarding safe blood transfusion practices. Prevention programs, along with increased public awareness and education about β-TM and carrier screening, are pivotal. Collaborative efforts with international partners and drawing insights from successful strategies in countries with similar β-TM burdens can aid in mitigating the overall impact of β-TM in Pakistan and improving the quality of life of the affected individuals.</p>

DETERMINING THE DIAGNOSTIC ACCURACY OF RED CELL DISTRIBUTION WIDTH (RDW) IN THE DIFFERENTIAL DIAGNOSIS OF IRON DEFICIENCY ANEMIA (IDA) AND NON TRANSFUSION-DEPENDENT BETA THALASSEMIA (BTT).

BACKGROUND: Hypochromic microcytic Anaemia comprises the major chunk of red blood-related disorders in our part of the world. Iron deficiency and beta-thalassemia are the most common hypochromic/microcytic Anemia . Red cell distribution width (RDW) is a credible marker of variation in red cell size (Anisocytosis). RDW is usually elevated in IDA due to variations in the size of erythrocytes while it is normal in the beta-thalassemia trait. Therefore, it is of considerable significance in the detection of IDA in clinical conditions, where Iron studies and other specialized investigations cannot be undertaken due to the reason of resource constrains. AIM: The study aims to detect the sensitivity and specificity of RDW in iron deficiency anemia (IDA) and beta thalassemia trait (TT). Hence, RDW is cost-effective and a reliable parameter in detecting IDA in the absence of many other diagnostic choices. METHODS: The study was conducted at Chughtai Institute of Pathology (CIP) Lahore from September 2019 –November 2019. It was a Cross-sectional Prospective study including 115 patients and dividing them into two main groups. Group 1 included patients of IDA. Group 2 included patients with beta Thalassemia trait having Haemoglobin A2 values of >3.5 diagnosed on Capillary Haemoglobin Electrophoresis. RESULTS: The overall age of patients was 28.5±9.5 years and 30(26.1%) were males. Thirty-one (27.0%) were diagnosed as βTT among them.RDW had a sensitivity of 83.9% and specificity of 91.7% in the diagnosis of βTT by differentiating from IDA. CONCLUSION: RDW is a reliable and useful index for the diagnosis of IDA and differentiates it from βTT.

Estimation of Microalbuminuria in Children with Beta Thalassaemia Major: A Cross-sectional Study

Introduction: Improvement in the standard of care of Thalassaemia by regular blood transfusion increases life expectancy. Multiple transfusions with concurrent iron overload and chronic anaemia, leading to tissue-level hypoxemia, cause significant renal dysfunction. Microalbuminuria is a sensitive marker of glomerular damage, and studies in thalassemic children have demonstrated variable prevalence rates of microalbuminuria. Aim: To study the prevalence of microalbuminuria and its association with clinical and laboratory parameters in children with Beta Thalassaemia Major (BTM). Materials and Methods: A cross-sectional study was conducted from January 2018 to June 2019 at Indira Gandhi Institute of Child Health, Bangaluru, Karnataka,India. A total of 155 children with Beta Thalassaemia Major (BTM) aged 2-18 years, attending the Thalassaemia Day Care Centre, were included in the study. Their demographic details such as age, gender, clinical parameters like frequency of transfusions, type of chelation therapy, height, weight, Body Mass Index (BMI), organomegaly, and laboratory parameters like serum creatinine, ferritin, pretransfusion Hb%, and Urinary Microalbumin Creatinine Ratio (UMCR) were studied as per a predesigned proforma. The association between microalbuminuria with clinical and laboratory parameters was evaluated using the independent sample T-test or Mann-Whitney U test and Chi-square/Fischer’s-exact test. Results: A total of 155 children with BTM were studied. In the present study, out of a total of 155 patients, microalbuminuria was found in 66 (42.6%). A significant increase in the prevalence of microalbuminuria was observed as the age advanced, as the frequency of blood transfusions increased, with low pretranfusion haemoglobin (g%), and with elevated serum ferritin. Conclusion: In the present study, the prevalence of microalbuminuria was found to be 42.6%. Screening for microalbuminuria is recommended in all children with beta thalassaemia major for the early detection of renal dysfunction, prevention of disease progression, and improvement in the quality of their lives.

DIAGNOSTIC VALUE OF MENTZER INDEX FOR THALASSEMIA PREDICTION IN SUSPECTED PATIENTS OF PUNJAB

Thalassemia is a genetic disease and became a worldwide problem. Worldwide, about 3-8% of population are suffered from beta thalassemia. The aim of this study was to use Mentzer index for predicting the beta thalassemia patients in the population of Punjab. This was a retrospective study conducted between 2021 September to 2022 June. In the current study, about n=1000 patients were selected to screen out for beta thalassemia in which n=607 were positive while the remaining were negative for the disease. Their sample were analyzed by using ABACUS 380 hematology analyzer for CBCs and hemoglobinpathies analysis and HPLC (high pressure liquid chromatography) for Hb analysis. Out of n=607 patients, 47 have beta thalassemia major in which 22 were male and 25 females respectively. In this study thalassemia positive females were 57.85% (n=350/605) and males were 65.06% (n=257/395). The prevalence of beta thalassemia was high (65.9%) in 16-30 years age group (P=<0.001).N=345 patients were positive for beta thalassemia minor in which 130 were male and 215 were female respectively. About n=179 patients were positive for beta thalassemia intermedia in which 89 were male and 90 were female patients. Thalassemia major was characterized by low level of Hb, HbA2 values between 3.5 to 9%, MCV between 50<70 fl and MCH >12<20 pg. But for beta thalassemia intermedia, the Hb were between 7 and 10 g/dl, MCV from 50-80fl and MCH between 16-24 pg. Thalassemia minor was categorized by slight low level of Hb, HbA2 values between 11.5-15.3%, RBCs between 4.8-5.3 million cells per microliter, MCV between 70<79 fl, MCH <27 pg and MCHC <30 g/dl respectively. Hemoglobinpathies such as Hb, HbA1, HbF and HbA were found significant (P=0.00) in both male and female patients This study recommends many diagnostic facilities, prevention centers to speed up the awareness camp and communicate with the family for screenings in regions of Punjab. Mentzer index could be used to predict the diagnosis of beta thalassemia.

Penyuluhan Osteoporosis dalam Upaya Pencegahan Komplikasi Tulang pada Pasien Talasemia Mayor di Kabupaten Rembang dan Grobogan

Background Osteoporosis is a complication that often occurs in thalassemia major patients. This complication is still not widely known. This community service program aims to increase the knowledge of families of major thalassemia patients in Rembang Regency and Grobogan Regency regarding the complications of osteoporosis in thalassemia patients. Methods Education about osteoporosis, risk of osteoporosis in thalassemia patients, and prevention of osteoporosis. Extension method with presentation and discussion. The activity was attended by 20 thalassemia families in the Rembang Regency and 21 families of thalassemia patients in the Grobogan Regency. Before and after counseling, pretest and posttest questionnaires were completed to measure the knowledge of families of thalassemia major patients regarding bone complications in thalassemia patients. Results and Discussion Nearly half (46.34%) of respondents did not know the risk of osteoporosis in thalassemia. After counseling, 82.93% of respondents knew the risk of osteoporosis in thalassemia, but there were still 17.07% of respondents who still did not know this risk. Conclusion There is a significant increase in family knowledge of thalassemia major patients about the risk of osteoporosis in thalassemia. Further efforts to increase knowledge are needed with written information media (leaflets) given to families of thalassemia major patients

Role of serum hepcidin as a marker of iron overload in beta thalassemia major

Background: Beta thalassemia major (BTM) is the most common hemolytic anemia. Regular blood transfusion is a basic treatment modality, recurrent blood transfusion which leads to iron overload and its complications. Hepcidin hormone is found to be a key regulator of iron homeostasis and is significantly increased in children of BTM with iron overload. The main objective of the study is to find out the role of serum hepcidin as a potential marker of iron overload in children with BTM, and to correlate the relationship between serum hepcidin and serum ferritin level in BTM children. Methods: This was a hospital based prospective observational study conducted at Indira Gandhi institute of child health for 12 months from January 2019 to December 2019. Included 100 children between age group of 2 months to 18 years diagnosed with BTM on blood transfusion and 50 age and sex matched healthy controls. Results: In the study group 70% children had >5 transfusions. The median serum hepcidin level (2.354 ng/ml) was significantly higher among those with higher number of total transfusions (>5 transfusions). In addition, hepcidin level showed good positive correlation with total number of transfusions (r=0.608, p<0.001). Also, serum hepcidin showed positive correlation with serum ferritin levels with 87% sensitivity and 88% specificity which was statistically significant (r=0.749, p<0.001). Conclusions: In the present study, BTM children who received >5 transfusions serum hepcidin level was significantly elevated and serum hepcidin showed positive correlation with serum ferritin levels. Thus, hepcidin can be considered as a potential marker of iron overload in patients with BTM.

Evaluation of the level of 5'-nucleotidase and some biochemical parameters in the sera of beta-thalassemia patients

One of the hydrolytic enzymes that catalyzes the hydrolysis of 5' -nucleotides into ribonucleosides and phosphate is the 5'nucleotidase, which is found in several organs. Oxidative stress shows depletion of antioxidants, such as glutathione (GSH), and the increased concentration of product of lipid peroxidation, such as MDA. The study comprised a total of 54 subjects including patients with beta thalassemia (n=27) and healthy volunteers (n=27) matched by age and gender. Hematology (Hb and % PCV), 5'-nucleotidase, Ferritin, GSH and MDA were measured using different methods and devices. The 5'nucleotidase, Ferritin, and MDA levels were significantly increased (p<0.001) in beta-thalassemia patients compared to the controls. As opposed to that, the Hb, % PCV and GSH levels were significantly decreased (p<0.001) in patients with beta-thalassemia. There was a negative significant correlation (r = -0.146, -0.245, p<0.05) between Hb and 5'- NT enzyme and PCV% with 5'- NT enzyme, respectively. While Hb had a high significant correlation (r = 0.956, p<0.05) with PCV%. In addition, 5'- NT enzyme had a positive significant correlation with GSH, MDA and Ferritin (r = 0.584, 0.442, 0.735, p<0.05), respectively. The present findings indicated an increase in the level of effectiveness of the 5'nucleotidase enzyme, ferritin and GSH in β thalassemia patients while decreasing in MDA.

Cognitive impairment in beta thalassemia major and intermedia pediatric patients: a cross-sectional study

BackgroundThalassemia is a commonly occurring genetic hemoglobinopathy worldwide. Periodic and routine blood transfusions, iron chelation therapy and splenectomy procedures are all required for the treatment of thalassemia. Numerous organs and bodily systems could be impacted by thalassemia, particularly the nervous system, which could impede cognitive performance. The study aimed to assess cognitive abilities of pediatric patients diagnosed with beta thalassemia major and intermedia.Patients and methodsA total of 168 participants [54 β-thalassemic major children, 51 with β-thalassemia intermedia and 63 age-matched healthy controls from both genders (85 girls and 83 boys)] with age ranging from 8 to 16 years were participated in a cross-sectional study. Cognitive function was evaluated for all children by using the Wechsler Intelligence Scale For Children 4th edition.ResultsCompared with control group, a significant decline was found in all Wechsler Intelligence Scale subtests as well as in verbal comprehension index, perceptual reasoning index, working memory index, processing speed index and full scale index scores of thalassemia major and intermedia patients (p < 0.001). When compared to children with thalassemia intermedia, the beta thalassemic major children showed a significant decrease in all Wechsler Scale subtests as well as in all its five index scores (p < 0.001).ConclusionsThe study concluded that thalassemia negatively affects and impairs cognition and intellectual capacities.

Endocrinopathies in beta thalassemia: a narrative review.

Beta thalassemia is the most common genetic blood disorder, characterized by reduced production or complete absence of beta-globin chains. The combination of systematic red blood cell transfusion and iron chelation therapy is the most readily available supportive treatment and one that has considerably prolonged the survival of thalassemia patients. Despite this, the development of endocrine abnormalities correlated with beta thalassemia still exists and is mostly associated with iron overload, chronic anemia, and hypoxia. A multifactorial approach has been employed to investigate other factors involved in the pathogenesis of endocrinopathies, including genotype, liver disease, HCV, splenectomy, socioeconomic factors, chelation therapy, and deficiency of elements. The development of specific biomarkers for predicting endocrinopathy risk has been the subject of extensive discussion. The objective of the present narrative review is to present recent data on endocrinopathies in beta thalassemia patients, including the prevalence, the proposed pathogenetic mechanisms, the risk factors, the diagnostic methods applied, and finally the recommended treatment options.

Thalassemia (Beta-Thalassemia)

Thalassemia is an inherited blood disorder characterized by less oxygen carrying protein (Haemoglobin) and fever red blood cells in the body than normal. There are mainly two types of thalassemia i.e. Alpha and Beta thalassemia about 1-5% of the global population 80-90 million people are the carrier of ß thalassemia which is major concern. In this review article fundamental aspects about thalassemia, it’s history is discussed. This review also focuses upon the types of ß thalassemia, pathophysiology, mechanism of transmission, diagnosis of ß thalassemia . Finally various treatment strategies and future aspects are addressed.

Incidence, management and outcome of Hepatic Veno-Occlusive disease /Sinusoidal Obstruction Syndrome after hematopoietic stem cell transplant in Thalassemia major patients: A prospective study of Pakistani BMT.

Hepatic Veno occlusive disease (VOD), also known as sinusoidal obstruction syndrome (VOD/SOS), is a post-transplant life threatening complication. In this study, we aimed to discuss the incidence, management and outcome of VOD in post allogenic transplant patients of beta thalassemia major (BTM). A prospective study was conducted in Armed Forces Bone Marrow Transplant Center, between 2001-2022. A total of 385 fully Human Leucocyte Antigen (HLA) matched BTM patients, with Ursodeoxycholic acid for prophylaxis, were included in the study. Incidence of VOD was calculated through cumulative incidence estimates. Chi square test and Mann Whitney test were used to compare discrete and continuous variables respectively. VOD was diagnosed and graded according to European Society for Blood and Marrow Transplantation EBMT Pediatric diagnostic criteria. Risk factors for VOD were grouped as recipient, transplant and donor related. Univariate analysis was performed by log-rank test. All patients who developed VOD were managed primarily with fluid restriction and strict input output monitoring. Statistical analyses were performed using SPSS v 25.0. Out of 385 transplant patients, forty developed VOD. Median time from date of transplant till onset of VOD was 14 days (range 6-30). Cumulative incidence of all grade VOD was 10.39% (95% CI, 7-14). Eleven out of 40 patients who developed VOD died. Cumulative incidence of Transplant related mortality (TRM) for patients with and VOD was 20.5% (95% CI, 16.6-25.1) vs 27.5% (95% CI, 16.1-42) (p value 0.318) respectively. Among risk factors, age of recipient and fibrosis (p value of 0.04 and 0.000 respectively) were found to be significantly associated with VOD. Careful selection of transplant candidates before transplant can help reduce the incidence of VOD.

Study of thyroid functions in transfusion dependent thalassemia patients of pediatric age group with reference to serum ferritin level in a tertiary care centre

Hypothyroidism is one of the most common endocrine complication in transfusion dependent thalassemia patients. Its prevalence and severity is variable and the natural history is poorly described. The frequency of hypothyroidism in Beta Thalassemia Major (BTM) children ranges from 6 to 30%. To determine the levels of serum TSH and FT4 in patients with transfusion-dependent thalassemia (TDT), as well as their relationship to the degree of iron excess indicated by serum ferritin levels. This observational descriptive study was undertaken on 200 patients (5 to15 yrs of age) in the department of Pediatrics in SCB Medical College, Cuttack, Odisha, India from to after obtaining clearance from institutional ethical committee. Out of total 200 TDT children, 141(70.50%) were euthyroid and 59(29.50%) were hypothyroid. Among hypothyroid children, 9(4.5%) had overt hypothyroidism and 50(25%) children had subclinical hypothyroidism. In children &amp;#60;10 years of age group there was a positive correlation between serum ferritin and rise in serum TSH (p &amp;#60; 0.05, r= .553). The rise in serum ferritin was statistically not significant with fall in serum FT4 (p &amp;#60; 0.05, r= .122). In children &amp;#62;10 years of age group, there was positive correlation between serum TSH and serum ferritin (p &amp;#60; 0.05,r=.845). There was an inverse relation between rise in serum ferritin and fall in serum FT4 (p &amp;#60; 0.05, r= -.406). Hypothyroidism was associated in significant number of transfusion dependent thalassemia patients. Adequate iron chelation therapy to keep serum ferritin level within normal limit and early detection of hypothyroidism preferably below 10 years of age will prevent hypothyroidism and its complications in transfusion dependent thalassemia.

Quality of life in children aged 5- 14 years with beta thalessemia major

With recent advances for a chronic disease like thalassemia, where lifelong management is required, the quality of life, not just survival gains important. Owing to high burden of thalassemia in Odisha, this study analyses the quality of life in pediatric beta thalassemia major and the factors influencing the same. This was a hospital based cross-sectional study done in a tertiary care hospital, Cuttack during September 2019 to January 2020. Children aged 5-14 years, diagnosed with beta-thalassemia major with regular blood transfusion, were subjected to modified SF-36 questionnaire to assess the quality of life in total and domains- General health , Physical health , Social activities , Limitation of activities, Educational , Psychological and Family aspect. Score above 50 considered as good. Data analysed using SPSS 18.0.Statistical significance was assessed by ANOVA and Chi-square test. Among 200 cases studied, majority (70.5%) had poor score, with mean being 49.19+6.53. In terms of domain, family aspect led (62.0+ 15.60), followed by limitation of activities(58.25+27.69), psychological aspect (51.75+ 12.47), physical health (50.85+14.60), educational aspect (41.92+ 19.294), general health (41.40+12.32) and social aspect was 38.17+ 24.20.A significant association was noted between good quality of life and male gender (p-0.004), mother’s occupation (p-0.013), number of children (p-0.001), higher serum ferritin level (p&amp;#60;0.05) and blood transfusion frequency (p-0.015) in the study population. Considering the poor quality of life in children with thalassemia major, there is urgent need to focus on holistic approach towards management incorporating educational, emotional and physical rehabilitation, to ensure their productivity in the society.