Abstract
Background: Beta-thalassemia is the commonest single-gene disorder in the Indian population. Beta thalassemia major is caused by complete absence of beta globin chain production resulting from reduced synthesis of one or more globin chains which can be caused by different globin gene mutation resulting in ineffective hematopoiesis, increased hemolysis and early onset anemia.
 Methods: A cross-sectional; case control study was done on 50 diagnosed Cases of beta-thalassemia major in the age group of 1 year to 18 years receiving regular blood transfusions; not suffering from any ailment or any other disease leading to deranged lipid profile were included. In controls; 50 normal healthy children were included.
 Results: Lipid analyses of controls and thalassemic children. It is clear from the results that beta thalassemia major patients had significantly lower total cholesterol (TC), high-density lipoprotein cholesterol (HDL) and low-density lipoprsotein cholesterol (LDL) compared with controls (p<0.001).
 Conclusion: Lipid profile in Beta thalassmia patients show significantly low levels of total cholesterol, LDLC and HDL-C.
 Keywords: Beta Thalassemia Major, Lipid Profile, Hypocholesterolemia.
Highlights
Beta-thalassemia is the commonest single-gene disorder in the Indian population
Beta thalassemia major is caused by complete absence of beta globin chain production resulting from reduced synthesis of one or more globin chains which can be caused by different globin gene mutation resulting in ineffective hematopoiesis, increased hemolysis and early onset anemia
A cross-sectional; case control study was done on 50 diagnosed Cases of beta-thalassemia major in the age group of 1 year to 18 years receiving regular blood transfusions; not suffering from any ailment or any other disease leading to deranged lipid profile were included
Summary
Beta-thalassemia is the commonest single-gene disorder in the Indian population. Beta thalassemia major is caused by complete absence of beta globin chain production resulting from reduced synthesis of one or more globin chains which can be caused by different globin gene mutation resulting in ineffective hematopoiesis, increased hemolysis and early onset anemia. It has been estimated that the prevalence of pathological haemoglobinopathies in India is 1.2/1,000 live births, and with approximately 27 million births per year this would suggest the annual birth of 32,400 babies with a serious hemoglobin disorder. There are about 240 million carriers of β-thalassemia worldwide, i.e. 1.5% of world population. A WHO update on betathalassemia in India indicated a similar overall carrier frequency of 3–4%, based on that the current national population would translate to between 35.6 and 47.5 million carriers of the disorder nationwide. The major complications of blood transfusion are those related to transmission of infectious agents or development of iron overload.[3,4]
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