alpha alpha alpha anti-4.2 Haplotype and heterozygous beta null thalassemia in a Sicilian family.
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.
D000328:Adult; D002872:Chromosome Deletion; D005260:Female; D005784:Gene Amplification; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D011247:Pregnancy; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins