A novel mutation of the β‐globin gene promoter (−102 C>A) and pitfalls in family screening
Copyright policy )A novel mutation of the β‐globin gene promoter (−102 C>A) and pitfalls in family screening
AbstractWe describe a family with β‐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 β‐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 β‐thalassemia mutation, −102 (C>A), in the distal CACCC box of the β‐globin gene promoter. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.
Male, Adolescent, Reproducibility of Results, Polymorphism, Single Nucleotide, Globins, Pedigree, Mutation, Humans, Family, Female, Genetic Testing, Promoter Regions, Genetic
Male, Adolescent, Reproducibility of Results, Polymorphism, Single Nucleotide, Globins, Pedigree, Mutation, Humans, Family, Female, Genetic Testing, Promoter Regions, Genetic
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