A Short Review of Human γ-Globin Gene Anomalies

1 January 1987

journal article
review article
Published by S. Karger AG in Acta Haematologica

Vol. 78 (2-3) , 80-84
https://doi.org/10.1159/000205850

Abstract

This paper summarizes various anomalies involving the duplicated y-globin genes which are normally arranged as -^Gγ-^Aγ-. Variations include^Gγ→^Aγand ^Aγ→^Gγ replacements; newborn heterozygotes for these anomalies have low ^Gγ (^Aγ^Aγ/^¤γ^Aγ) or high ^Gγ values (^Gγ^Gγ/^Gγ^Aγ). Additional abnormalities include the deletion of one γ-globin gene (-^Aγ-; γ-thalassemia), γ-globin gene triplications (^Gγ-^AGγ-^Aγ-; ^Gγ-^Gγ-^Aγ) and γ-globin gene quadruplications (^Gγ-^Gγ-^Gγ-^Aγ-); several of these conditions are found in different populations but at low frequencies. In adults, the ^Gγto ^Aγ ratio in the Hb F and often also the Hb F level, are directly related to specific structural characteristics of the chromosome; specific mutations in the promoter sequences 5’ to ^Gγor to ^Aγ, for instance, may result in increased ^Gγ or ^Aγ chain production with an increase in Hb F levels (nondeletional ^Gγ- or ^Aγ-HPFH) or with only modest changes in the total Hb F (normal adults; Swiss-HPFH). Similar variations have been observed in SS patients

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