A novel mutation of the p-globin gene promoter (-102 C>A) and pitfalls in family screening

We describe a family with beta-thalassemia in which several pitfalls of genetic diagnoses were present. These include coherent family phenotypes with discrepancies in molecular findings because of nonpaternity, and a false P-globin gene homozygous genotype due to a large deletion in the second locus. These findings underline the difficulties of family genetic studies and the need for tight relationship between professionals involved in laboratory studies and those in-charge of the clinical follow-up and genetic counselling. In this family, we also report a new silent beta-thalassemia mutation, -102 (C > A), in the distal CACCC box of the beta-globin gene promoter. Am. J. Hematol. 82:1088-1090, 2007. (c) 2007 Wiley-Liss, Inc.