A 61C and C 101G Hp gene promoter polymorphisms are, respectively, associated with ahaptoglobinaemia and hypohaptoglobinaemia in Ghana

Abstract

Haptoglobin (Hp) is an acute phase protein found in all vertebrates. It binds haemoglobin (Hb) to prevent both iron loss and kidney damage during haemolysis. Humans are unique in having a genetic polymorphism of the protein due to two codominant alleles, Hp1 and Hp2 which give rise to the three, Hp1/Hp1, Hp2/Hp1 and Hp2/Hp2 genotypes and the Hp1, Hp2–1 and Hp2 resulting phenotypes. Hp1 has two variants, Hp1F (fast) and Hp1S (slow), as a result of differential migration of their products on starch gels (1, 2). The Hp2 allele is supposed to originate froma chromosomal aberration (unequal crossing-over) in an individual who was heterozygous for Hp1F and Hp1S (3). A fourth phenotype, Hp0 has only been adequately