Summary
The presence of the αααanti-4.2 haplotype and heterozygous β° thalassemia in a Sicilian family is described. These findings confirm the presence in Italy of a leftward deletion (−α4.2) and indicate that this may not be rare. Furthermore, although the β thalassemia determinant in this family has a severe expression, the interaction with the triplicated α gene does not necessarily express itself as thalassemia intermedia.
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Acuto, S., Butticè, G., Saitta, B. et al. αααanti-4.2 Haplotype and heterozygous β° thalassemia in a Sicilian family. Hum Genet 70, 318–320 (1985). https://doi.org/10.1007/BF00295368
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DOI: https://doi.org/10.1007/BF00295368