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- W2025208664 abstract "Nine patients have been observed with homozygous β thalassaemia in each of whom one parent has a normal level of Hb A2. On the basis of clinical, haematological and globin chain synthesis studies these families have been divided into two groups. Group 1 (six families). Heterozygotes for normal Hb A2–β thalassaemia in this-group showed minimal red cell abnormalities, normal osmotic fragility but imbalanced globin chain synthesis (α/β= 1.6), and appear to correspond to previous descriptions of ‘silent’β thalassaemia. Double heterozygotes with high Hb A2-β thalassaemia have a clinical picture of mild β thalassaemia intermedia characterized by relatively low levels of Hb F (<20%) and γ chain synthesis. Group 2 (three families), β Thalassaemia heterozygotes with normal Hb A2 levels in this group showed more marked red cell abnormalities, decreased osmotic fragility and more imbalanced globin chain synthesis (α/β=2.5) than those in group 1. Double heterozygotes with high Hb A2-β thalassaemia are more severely affected and are transfusion dependent. Haemoglobin F and γ chain synthesis are high in these cases. The frequency of normal Hb A2-β thalassaemia in Greece may be as high as 10% of all β thalassaemia genes and this poses a significant problem for genetic counselling. Various molecular mechanisms are discussed which could account for the heterogeneity within these disorders." @default.
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- W2025208664 date "1979-05-01" @default.
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- W2025208664 title "The Heterogeneity of Normal Hb A<sub>2</sub>-β Thalassaemia in Greece" @default.
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- W2025208664 doi "https://doi.org/10.1111/j.1365-2141.1979.tb03703.x" @default.
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