Importance of Family Studies with High Performance Liquid Chromatography (HPLC) in Hemoglobin Disorders: An analysis of 37 Families

Abstract

The hemoglobin inherited disorders are one of the commonest single-gene disorders in man. Frequency of carriers of hemoglobinopathies varies from 3 to 17% in India. It is estimated that around 5.35% in India are the trait of Sickle cell, hemoglobin D, and hemoglobin E. However, the definite identification of disorders of hemoglobin synthesis can be achieved only by DNA analysis. In Indian scenario, family studies can be equally efficacious and cost-effective tool on HPLC and might be useful. This is a prospective study of 28 months. Total 37 families comprising of 114 family members were studied. Patients attending OPD and indoor admissions of institute with anemia, hepatosplenomegaly, showing sickling test and/or fetal fraction positive were included in the study along with their family members.