Clinical and haematological findings of a Sardinian family are described. Three members were carriers of Hb J Sardegna, 5 were heterozygous for β-thalassaemia and 2 were double heterozygous for Hb J Sardegna and β-thalassaemia. The presence of Hb J Sardegna did not give rise to appreciable changes in the haematological picture: heterozygous carries displayed normal values, while double Hb J/β -thalassaemia heterozygotes presented clinical and haematological signs typical for β -thalassaemia. In the propo-situs, the relative rate of synthesis of «- and β-chains and oxygen dissociation curve were studied. The interaction between β -thalassaemia and α-chain variants is discussed.
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© 1972 S. Karger AG, Basel
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