Hb Lepore in the Indian population

Abstract

A study of the spectrum of beta-thalassemia mutations in 230 patients with thalassemia major and 90 patients with thalassemia intermedia revealed mutations producing Hb Lepore in four patients. Two were homozygous and two were compound heterozygous for Hb Lepore and beta-thalassemia. Among the six delta beta fusion genes found in these four patients five were those producing Hb Lepore-Hollandia and one producing Hb Lepore-Washington-Boston. We also describe a possible misdiagnosis in the heterozygous state of Hb Lepore, as Hb Lepore and Hb A2 are not distinctly separated by cation exchange high performance liquid chromatography.