Hemoglobinopathy in India

Variations in hemoglobin structure as well as number of globin chains give rise to a wide spectrum of heritable disorders. As such, their detection is significant from epidemiological perspective, especially in India in which there is a large multi-cultural population with distinct geographic distribution. Although a few variants present severe clinical symptoms in homozygotes, co-existence of heterozygous mutants can lead to deleterious conditions. The aim of the present study is to provide an overview on the prevalence of different hemoglobinopathies among Asian Indians.

A large cohort of samples from all regions of India was analyzed by high performance liquid chromatography (HPLC) (n=25,297) and capillary electrophoresis (CE) (n=21,219).

Using HPLC, 8029 hemoglobin variants were detected. HbS trait was detected at the highest frequency (33.03%), principally from the Chattisgarh region. Using CE, 6524 variants were detected. HbS trait, again, represented the most common mutation (25.67%). A total of 40 variants including compound heterozygous cases were detected by HPLC and CE.

Our report is one of the few to analyze a large cohort and report on the spectrum of hemoglobin variants in India.