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• W2001546711 abstract "Ten patients with thalassemia intermedia with variable severity and apparent simple heterozygosis for β0 39 C>T nonsense mutation were submitted to clinical, hematologic and molecular studies. The presence of an unknown molecular defect (silent β-thalassemia) unlinked to the β cluster interacting with the heterozygous β thalassemia, was previously postulated in these families. Analysis of the α globin gene cluster with PCR-based methods (MLPA, GAP-PCR, digestion with restriction enzymes) detected complex rearrangements in the α cluster. A duplication of the α globin gene locus, including the upstream regulatory region, was present in all the patients, associated in some of them with deletion or non-deletion α thalassemia. The variability of the clinical phenotype correlates with the degree of the globin chain imbalance. The presence of α globin cluster duplication should be considered in patients heterozygote for β-thalassemia with thalassemia intermedia phenotype and in the carriers of suspected silent β thalassemia." @default.
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• W2001546711 date "2009-09-30" @default.
• W2001546711 modified "2023-09-25" @default.
• W2001546711 title "Association of globin gene quadruplication and heterozygous thalassemia in patients with thalassemia intermedia" @default.
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• W2001546711 doi "https://doi.org/10.3324/haematol.2009.005728" @default.
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