Manca, Laura and Cocco, Elena and Gallisai, Domenico Pietro Paolo and Masala, Bruno Lucio and Gilman, John G. (1990) Sardinian haplotype II β0-thalassemia is linked to the variant AγT-globin gene with a 4-bp promoter deletion and diminished AγT expression. Annals of the New York Academy of Sciences, Vol. 612 , p. 485-487. eISSN 1749-6632. Article.
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Several factors influence the severity of homozygous β-thalassemia: β-thalassemia
intermedia (non-transfusion dependent) patients often have at least one β+-thalassemia allele with only moderate impairment of β-globin production.
β-thalassemia is also ameliorated by coinheritance of α-thalassemia or by γ-globin
promoter mutations, such as T at position -158, which increase fetal hemoglobin
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