Article
{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.
Haematologica - 1 Jun 2008
Chang Jan-Gowth, Tsai Wen-Chan, Chong Inn-Wen, Chang Chao-Sung, Lin Chyi-Chang, Liu Ta-Chih
Abstract excerpt
beta-thalassemia major can be caused by homozygosity or compound heterozygosity for beta-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene. We report a patient with late-onset beta-thalassemia major that evolved from beta-thalassemia minor in which only one of her parents had the diseased HBB gene. To study the cause of beta-thalassemia major in...
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