Initiation codon mutation in an Asian Indian family

The β-thalassemias are a heterogeneous group of hereditary anemias. A multitude of mutations have been reported, resulting in varied phenotypes. In each ethnic group there is always a subset of common, less common, and rare mutations, which makes population screening, prenatal diagnosis, and genetic counseling easier. In this paper we report a rare β-thalassemia mutation found in an Indian subject by SSCP and sequencing analysis. The mutation, initiation ATG → ACG, was found in heterozygous condition in a patient belonging to Brahmin family of Uttar Pradesh origin. Haplotype analysis was performed to identify the chromosomal background associated with the mutation and to tracing the origin and spread of the mutation. This study, as previous studies, suggests that rare β-thalassemia mutations, such as the initiation codon mutations, have no set geographical distribution and are relatively recent. Am. J. Hematol. 71:134–136, 2002. © 2002 Wiley-Liss, Inc.