Five haplotypes in Black β-thalassaemia heterozygotes: three are associated with high and two with low Gγ values in fetal haemoglobin |
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Authors: | T Harano A L Reese R Ryan B L Abraham T H J Huisman |
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Institution: | Comprehensive Sickle Cell Center and Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, Georgia, U.S.A. |
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Abstract: | Genotypes at seven different polymorphic restriction sites (5'to the ° gene, at the G γ, at the A γ, at the Ψβ , 3'to the Ψβ , at the β , and 3'to the β genes) were analysed by restriction endonuclease mapping of the DNA from 66 Black β -thalassaemia heterozygotes from Georgia and several of their normal relatives. Five different haplotypes were observed. Three of these were associated with high G γ values in the small amount of Hb F (0.8-8.3%) present in the blood of these patients and two with low G γ values. One haplotype - + - ++++] that occurred on two of every three β thalassaemia chromosomes was associated with high G γ levels, and is the same as that found in some Black SS patients also having high G γ values (Gilman & Huisman, 1984). Two others - ++ - + - +] and ?+??+++] were also associated with high G γ, while two ????+++] and +????++] were associated with low G γ. Variation in haematological data, mainly MCV and MCH values, was found to be caused in part by the type of β -thalassaemia (defined by its haplotype) and by the presence of an additional α-thalassaemia-2 heterozygosity or homozygosity. |
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