Molecular Screening of Hemoglobin D Variant in Anemia Patients of Eastern UP Population, India

Abstract

Hemoglobinopathy is the commonest inherited monogenic disorders, which are highly prevalent in India. The three most predominant hemoglobinopathies are HbS, HbE, the aim of the present study is to determine the frequency of HbD in Eastern UP population. After taking written consent, blood samples was collected from 350 individuals and genomic DNA was extracted from a the collected blood samples. PCR-RFP method was used to analyze the mutation. Out of 350 samples analyzed, one individual was heterozygous (HbD/N) and two individuals were homozygous (HbD/D) for Hb D mutation. In conclusion, the overall βD allele frequency in Eastern Uttar Pradesh was observed as 0.71%.