β-Globin Gene Haplotypes Linked with the Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA] Mutation in Eastern India

Abstract

Hb D-Punjab [β121(GH4)Glu→Gln] is prevalent in the northern states of the Indian subcontinent. Due to inadequate data from Asian countries, the origin and spread of the Hb D-Punjab mutation are uncertain. In a study of sickle cell hemoglobinopathies, we detected the Hb D-Punjab mutation in 25 subjects from 11 unrelated Agharia families. Twelve cases were Hb S [β6(A3)Glu→Val]/Hb D-Punjab compound heterozygotes and 13 were Hb D trait carriers. In 76.0% of the cases, the β^D gene was linked to haplotype I, whereas 24.0% had a novel haplotype. None of the haplotypes matched the β^A haplotype of the local population. In view of the ancestral origin of the subjects and the high prevalence of the β^D gene in the states of northern India, we suggest a North Indian origin for the β^D mutation in our population. The finding of a novel haplotype in eastern India supports the hypothesis of a multicentric origin of this mutation.

• Hb D-Punjab
• Haplotype
• Agharia caste
• India