The presence of the .alpha..alpha..alpha.anti-4.2 haplotype and heterozygous .beta..degree. thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (-.alpha.4.2) and indicate that this may not be rare. Furthermore, although the .beta. thalassemia determinant in this family has a severe expression, the interaction with the triplicated .alpha. gene does not necessarily express itself as thalassemia intermedia.

ALPHA-ALPHA-ALPHA-ANTI-4.-2 HAPLOTYPE AND HETEROZYGOUS BETA-O THALASSEMIA IN A SICILIAN ITALY FAMILY

COSTA C;
1985

Abstract

The presence of the .alpha..alpha..alpha.anti-4.2 haplotype and heterozygous .beta..degree. thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (-.alpha.4.2) and indicate that this may not be rare. Furthermore, although the .beta. thalassemia determinant in this family has a severe expression, the interaction with the triplicated .alpha. gene does not necessarily express itself as thalassemia intermedia.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/252218
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