Case Reports
doi: 10.1159/000206230.
Alpha globin gene triplication in severe heterozygous beta thalassemia
- PMID: 3012927
- DOI: 10.1159/000206230
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Case Reports
Alpha globin gene triplication in severe heterozygous beta thalassemia
Acta Haematol.
1985.
Abstract
In an Algerian family, three sibs with an unusually severe heterozygous beta-thalassemia and two sibs with a typical heterozygous beta-thalassemia were found. Both conditions were transmitted vertically. Globin chain synthesis and DNA restriction enzyme analysis showed that the unusual severity of heterozygous beta-thalassemia observed in this family is related to an overproduction of alpha-globin chains originating from an alpha-globin gene triplication.
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