We describe the characterization of a novel 7.9 kb deletion that eliminated one of the duplicated α-globin genes, causing an α+-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 α+-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 α-globin gene (α2 AATAAA → AATA).

α-globin gene, α-thalassaemia, Deletion, Haemoglobin, Non-homologous recombination
dx.doi.org/10.1046/j.1365-2141.2003.04060.x, hdl.handle.net/1765/68910
British Journal of Haematology
Department of Hematology

Harteveld, C.L, van Delft, P, Wijermans, P.W, Kappers-Klunne, M.C, Weegenaar, J, Losekoot, M, & Giordano, P.C. (2003). A novel 7.9 kb deletion causing α+-thalassaemia in two independent families of Indian origin. British Journal of Haematology, 120(2), 364–366. doi:10.1046/j.1365-2141.2003.04060.x