Hb O Indonesia (α₂116(Gh4) Glu → Lys β₂): in Association with β-Thalassemia

The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression

“…A phenotypically similar HbO has been reported in an Iranian family (Rahbar et al 1975) and in an Italian (Marinucci et al 1978) family. Although the exact mutation responsible for this HbO phenotype has not been defined, electrophoretic analysis of tryptic digests of the -globin chain did indicate a mutation similar to that observed in the South Sulawesi populations, i.e., a glutamic acid to lysine substitution at amino acid residue 116.…”

“…A phenotypically similar HbO was reported in an Iranian family (Rahbar et al 1975) and in an Italian (Marinucci et al 1978) family. In all of these cases, the mutation could be shown by tryptic digestion experiments to be associated with an amino acid change at residue 116 (Glu116Lys) of the α-globin chain.…”

“…The level of HbO has been determined previously in two studies only. In one study involving two families, it was reported to be in the range of 16.4% to 28.5% (Marinucci et al 1978). However, the level of HbO in this early study was not properly determined because of the inability to separate HbO Ina from HbA 2 by the electrophoretic procedure available.…”

Occurrence of Haemoglobin Norfolk (α₂ 57(E6) GIy→Asp β₂) at the Level of 33% in an Italian Family from Calabria

“…It is noteworthy that in these carriers the level of Hb Norfolk does not appear to be decreased in comparison with the normal carriers, contrary to other known cases of interaction between /Mha lassaemia determinant and mutant structural a-chain genes (see Marinucci et al [16]). This paper describes the occurrence of Hb Norfolk at a level of about 33% in 5 subjects from an Italian family living in Crotone (Calabria).…”

Genetic Polymorphism of the α-Globin Haplotypes in a Population from Calabria (Southern Italy)

“…One clear-cut example is the relationship between the amount of a-chains produced and expression of //-variant genes: a recent paper by Huisman [1977] illustrates very well that a reduction of a-chains does affect much more the absolute quantity of certain //-variant chains than that of the normal //-chains. The reverse case of allele-specific gene effect has also been observed: //-thalassemia causes a preferential decreise of the quantitative expres sion of variant a-genes with respect to aA (all cases quoted in Marinucci et al [1978]). This clearly shows that the absolute expression of a given a-gene may exhibit specific variations.…”