1. A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin.
- Author
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Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC, Weegenaar J, Losekoot M, and Giordano PC
- Subjects
- Adult, Blotting, Southern, Child, Female, Humans, In Situ Hybridization, Male, Middle Aged, Netherlands, Suriname ethnology, Gene Deletion, Globins genetics, alpha-Thalassemia genetics
- Abstract
We describe the characterization of a novel 7.9 kb deletion that eliminated one of the duplicated alpha-globin genes, causing an alpha+-thalassaemia phenotype in two independent carriers of Suriname-Indian origin. The molecular characterization of the deletion breakpoint fragment revealed neither involvement of Alu repeat sequences nor the presence of homologous regions prone to recombination, suggesting a non-homologous recombination event. This alpha+-thalassaemia deletion was found to give rise to an atypical haemoglobin H (HbH) disease characterized by a non-transfusion-dependent moderate microcytic hypochromic anaemia in combination with a poly adenylation signal mutation of the alpha-globin gene (alpha2 AATAAA --> AATA-- --).
- Published
- 2003
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