Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)0-thalassemia in eastern India

It has recently been estimated that each year, more than seven million babies worldwide are born with either a congenital abnormality or a genetic disease.1 Hemoglobinopathies are the commonest autosomal hereditary disorders and present a major public health problem in India. The overall prevalence of the -thalassemia trait is 2.78% but this varies from 1.48 to 3.64% in different states of India2 compared to the carrier frequency in Brazil (1%).3 Recently we reported that the carrier frequency of the -thalassemia gene with the IVS1-5 (G→C) mutation in western districts of Odisha, India is 3.75%.4,5 In India, the IVS1-5 (G→C) mutation is the most common -thalassemia mutation. However, the IVS1-5 (G→C) mutation along with other mutations, including IVS1-1 (G→T), Cd41/42 (-TCTT), Cd 8/9 and a 619 base pair deletion, accounts for >90% of mutations causing -thalassemia. In Brazil, the Cd 39 (C→T) mutation is the most prevalent cause of -thalassemia