Polymerase Chain Reaction-Based Search for Two α-Globin Gene Mutations in India

We have used restriction site-dependent polymerase chain reaction (PCR)-based methodology for detection of the α-globin polyadenylation (poly A) signal mutation, AATAAA>AATA– – and Hb Sun Prairie [α130(H13)Ala→Pro, GCT>CCT (α2)] mutation. The former mutation produces Hb H disease in the homozygous state and occurs frequently in the Indian population. It was detected in nine of 77 putative α-thalassemia (α-thal) patients and in three of 13 β-thal intermedia patients tested. Four of the nine α-thal patients were homozygotes for the mutation. The Hb Sun Prairie mutation was confirmed in two α-thal patients, one of whom was a homozygote and the other a heterozygote.