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- W2030349912 abstract "In this paper we review the molecular basis of the marked heterogeneity of the thalassemia syndromes as well as the relative implications for carrier screening and prenatal diagnosis. The classical phenotype of heterozygous β-thalassemia may be modified by a number of evironmental and genetic interacting factors—among which the most relevant are: (1) coinheritance of α-thalassemia, which may normalize the red blood cell indices; (2) the presence of a mild β-thalassemia mutation; (3) cotrasmission of δ-thalassemia which may reduce the increase of HbA2 typical of heterozygous β-thalassemia to normal values and (4) the presence of a silent mutation which can be defined only by imbalanced β-globin chain synthesis. A number of molecular mechanisms are able to produce the non transfusion dependent attenuated forms of thalassemia syndromes referred to as thalassemia intermedia. The most common are homozygosity for mild β-thalassemia mutations, coinheritance with homozygous β-thalassemia of α-thalassemia or genetic determinants able to substain a continuous production of HbF in adult life or the presence of heterozygosity for hyperunstable globin variants." @default.
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- W2030349912 date "1994-03-01" @default.
- W2030349912 modified "2023-09-24" @default.
- W2030349912 title "Genotype-phenotype correlations in β-thalassemias" @default.
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- W2030349912 doi "https://doi.org/10.1016/0268-960x(94)90002-7" @default.
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