First report of a nonsense mutation at codon 15(TGG→TAG) in exon 1 of the β globin gene in a β thalassemia trait in State of Orissa, India

Abstract

Prevention of β thalassemia requires knowledge of the molecular spectrum occurring in the population at risk. This knowledge is particularly necessary when prevention control is applied to a multiethnic population. For this purpose, we are analyzing different populations of Orissa (India). During the study we encountered a β thalassemia major patient (a child) who was doubly heterozygous for IVS I-5(G→C) and codon 15(G→A) alleles where codon 15(G→A) was for the first time found in the father of the patient. Also, the patient showed severe clinical abnormalities because of the severe nature of these β thalassemia alleles. This will provide further insights into β globin gene regulation and the genotype–phenotype relationship.

Keywords:

• BETA THALASSEMIA
• MUTATION
• SPLENOMEGALY
• JAUNDICE