Author(s): Mohan N, Sarkar R
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Abstract Although rapid technical advances have taken place in the diagnosis of beta-thalassemia, still the hematological factors were found to be suitable screening test in areas like Indian subcontinent where a high prevalence of beta-thalassemia trait was observed. Among various thalassemias reported in Asian Indians, beta-thalassemia account for about 80\% and is responsible for very high infantile mortality. Despite this, little is known about the hematological status of beta-thalassemias among this ethnic group which is associated with more than five different predominant beta-globin mutation with high frequency and variable number of rare ones. The present study is the first report of hematological status of beta-thalassemia among this ethnic group particularly from Tamil Nadu, Southern India, who are still practising high degree of consanguinity. In the present study, a total number of 364 beta-thalassemics were investigated. This includes 84 cases of homozygous beta-thalassemias and the remaining 280 were heterozygotes. The hematological factors such as red cell indices, hemoglobin F and hemoglobin A2 were assessed. The results revealed a wide spectrum of hematological variables ranging from severe form as that of Mediterranean thalassemias to very mild form of anemia as that of African Negro population.
This article was published in Indian J Pediatr
and referenced in Hereditary Genetics: Current Research