Compound Heterozygosity for Hb S [β6(A3)Glu→Val, GAG→GTG] and a New Thalassemic Mutation [β132(H10)Lys→Term, AAA→TAA] Detected in a Family from West Africa

Abstract

We describe a Hb S/β-thalassemia (β-thal) mutation involving an A→T transition at codon 132 of the β-globin gene. The mutation, in the heterozygous state, unlike several other mutations in exon 3, shows no signs of dominant thalassemia but those of a typical β⁰ carrier. Compound heterozygosity with Hb S [β6(A3)Glu→Val, GAG→GTG] showed a severe clinical picture.

Keywords:

• Hb S/β-thalassemia (β-thal)
• Exon 3 β⁰ mutation