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- W2007777335 abstract "We have identified two α-globin gene variations in an Arabian male with severe hemolytic disease through sequencing of amplified DNA of his α2- and α1-globin genes. One of the abnormalities involves a CAC (ACC or CCA) deletion between codons 36 and 41 of the α1-globin gene. This leads to the synthesis of an abnormal α chain with one instead of two threonine residues at positions 38–39 and to the formation of the unstable Hb Taybe. The second variation is a mutation located in the poly A site of the α2-globin gene (AATAAA → AATAAG) which is common among Arabian people. Family studies have shown that the two variations are located on opposite chromosomes. The hemolytic disease in this man, resembling Hb H disease, is likely the result of a severe downregulation of both α-globin genes on the chromosome with the α2 poly A mutation, and the instability of the α-Taybe chain being the product of an α 1-globin gene; this leaves only one α2-globin gene normally active. © 1994 Wiley-Liss, Inc." @default.
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- W2007777335 title "Compound heterozygosity for two α-globin gene defects, Hb taybe (α1; 38 or 39 minus thr) and a poly a mutation (α2; AATAAA → AATAAG), results in a severe hemolytic anemia" @default.
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- W2007777335 doi "https://doi.org/10.1002/ajh.2830470310" @default.
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