Four unrelated Calabrian families in which an α(J)-globin chain variant segregated have been studied. Structural studies identified the variant as Hb Norfolk (α2 57 (E6) Gly → Asp β2) in 1 family, and Hb J Oxford (α2 15 (A13) Gly → Asp β2) in 3 families. The abnormal hemoglobin has been quantitated both in absolute and relative terms in all the carriers in order to obtain information on the possible heterogeneity among the normal α(A)-haplotypes. The findings in 1 family strongly suggest that 2 quantitatively different α-haplotypes segregate. This provides evidence for the occurrence of a quantitative polymorphism of the α-haplotypes also in this population.
Genetic polymorphism of the α-globin haplotypes in a population from Calabria (Southern Italy). Studies with variants of the α-globin chain / Modiano, G.; Brancati, C.; Marinucci, M.; Massa, A.; Mavilio, F.; Tentori, L.. - In: HUMAN HEREDITY. - ISSN 0001-5652. - 29:6(1979), pp. 337-347. [10.1159/000153069]
Genetic polymorphism of the α-globin haplotypes in a population from Calabria (Southern Italy). Studies with variants of the α-globin chain
Mavilio F.;
1979
Abstract
Four unrelated Calabrian families in which an α(J)-globin chain variant segregated have been studied. Structural studies identified the variant as Hb Norfolk (α2 57 (E6) Gly → Asp β2) in 1 family, and Hb J Oxford (α2 15 (A13) Gly → Asp β2) in 3 families. The abnormal hemoglobin has been quantitated both in absolute and relative terms in all the carriers in order to obtain information on the possible heterogeneity among the normal α(A)-haplotypes. The findings in 1 family strongly suggest that 2 quantitatively different α-haplotypes segregate. This provides evidence for the occurrence of a quantitative polymorphism of the α-haplotypes also in this population.
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