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αααanti-4.2Haplotype and heterozygous β° thalassemia in a Sicilian family

✍ Scribed by S. Acuto; G. Butticè; B. Saitta; A. M. Pirrone; R. Gambino; C. Costa; A. Giambona; P. Gioco; R. Marzo; A. Maggio

Publisher
Springer
Year
1985
Tongue
English
Weight
306 KB
Volume
70
Category
Article
ISSN
0340-6717

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✦ Synopsis

The presence of the alpha alpha alpha anti-4.2 haplotype and heterozygous beta null 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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