\(\beta\)-like Globin Gene Cluster Haplotypes in Sickle Cell Disease Patients in Odisha, India

Abstract

Though Sickle cell disease (SCD) is genetically characterised by a single point mutation, there are various modulators that affect the phenotype of this disease with varying degrees of clinical severity. The most important phenotype modulators are HbF concentration, association of \(\alpha\)-thalassemia, haplotype. SCA is associated with five "classical" haplotypes, each with different geographic distributions across different regions of the world. It has been suggested that these haplotypes also influence HbF concentration. 

Lowest HbF concentration is found in Benin and Bantu haplotype and highest in Indian-Arab (AI) haplotype. Eight polymorphic sites within the \(\beta\)-globin gene cluster (Xmnl G\(\gamma\), Hind-III G\(\gamma\), Hind-III A\(\gamma\), HincIl \(\psi\)\(\beta\), HincII 3’ \(\psi\)\(\beta\), RsaI 5’\(\beta\), AvaII \(\beta\) and HinfI 3’\(\beta\)) were analyzed by Restriction Fragment Length Polymorphism (RFLP). We observed the presence of Arab-Indian haplotype in all our samples.  We have also found that 75.86% showed homozygous Arab-Indian population followed by 24.14% heterozygous Arab-Indian population.