Association between Genotype and Lipid Profile in Patients with Beta Thalassemia

Abstract

Background: The inherited hematological condition thalassemia is defined by a reduction in or lack of synthesis of one or more globin  chains. One or more mutations in the beta-globin gene cause β thalassemia. Because of dyslipidemia, children with beta thalassemia are  susceptible to early atherosclerosis. Some clinical characteristics of thalassemia, such as altered endocrine function and greater  susceptibility to infections and vascular problems, may be pathologized by lipids and lipoproteins. The objective is to assess the serum  lipid profiles of individuals with β thalassemia and determine any potential genetic correlations.

Subjects and methods: The study  included 73 children with β thalassemia and 73 age and sex matched children as a control group. Lipid profile was assessed in both  groups. Patients genotype was analyzed by PCR. 

Results: In β thalassemia patients, total cholesterol, LDL-C, and HDL-C levels were  significantly decreased while, TG concentration was significantly increased in patients compared to normal control group. 49.3% of patients had β+β + genotype, 35.6% of them had β0β 0 genotype and 15.1% had β0β + . The commonest mutation was the homozygous  IVS 1–1 (19.2%) followed by homozygous IVS 1-110 (15.1%) then homozygous IVS 1-6 (11%). β 0β 0 genotype is correlated with more  reduction in TC, and LDL-C HDL-C levels and more increase in TG level. 

Conclusion: We recommend regular monitoring of lipid profile in  patients with β thalassemia, especially those with β 0β 0 genotype to prevent or at least enhance the early detection of cardiac disease.