Hemoglobinopathies in India

Abstract

Hemglobin variants, thalassemia, hereditary persistence of fetal herroglobin and compound disorders reported from India are listed in tabular form by state and population.

In India, the heimglobinopathies occur in the midst of a uniqe genetic heterogeneity. The population of nearly 700 millim is divided into thousands of highly endogamus groups, many of which are virtual genetic isolates. Consequently, results from a survey for hemoglobin abnormalities in one group may not be generalized to other populations. Furthermore, of the small fraction of these endogamus groups which have been studied, only a minority have been examined with a range of laboratory techniques which could identify abnormalities in both hemoglobin structure (variant hemoglobins) and production (thalassemia, hereditary persistence of fetal hemoglobin). In spite of these limitations, my Common hemoglobin abnormalities (hemoglobin [Hb] D, E and S; α- and β- thalassemia) haw been identified at appreciable frquencies in a variety of Indian populations and a nmkr of less nmkr Conditim have been recognized.

The table Lists the kmqlobin wiants, thalassemias, hereditary persistence of fetal hemglobin (HPFH) and anpound disorders which have been reported from India. Occurrences of each Conditia are listed by state aold popllation with, for surveys, the nmber of individuals examimd and the numbers of heterozyps and homozycptes identified. Cases have been classified accoIcting to the diagnosis given in the plblishea reprt altbugh sane of the original classifications haw subsequently been guestianed (61, 73). Sane early case reports of Thalasserua Syrdromrs Which could not be classified include Wferenrxs 28, 33, 41, 42, 47, 55, 58, 64, 103, 106, 107, 116