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Normal adult hemoglobin (Hb) consists of two pairs of globin, two α, and two β-chains. When the β-globin chain structure or function is altered, in which one or both copies fail to produce normal β-globin, the α-globin gene continues its normal α-globin production. The imbalance of α/β-globin chain synthesis, most evidently in homozygous forms, leads to the accumulation of free a-globin chains, which then form highly toxic aggregates.
Citation: Hassan S, Ahmad R, Hamid FSA, Aziz NA, Omar SL, et al. (2015) Compound Heterozygous -30 (T>C) and Cd 41/42 (-TTCT) Leading to β-thalassemia Major in a Malay Autistic Patient. J Blood Disorders Transf 6:246. doi: 10.4172/2155-9864.1000246
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