A novel mutation of the beta-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 beta-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.
Aguilar-Martinez
Patricia
P
Laboratory of Hematology, CHU of Montpellier, Montpellier, France. p-martinez@chu-montpellier.fr
Jourdan
Eric
E
Brun
Sophie
S
Cunat
Séverine
S
Giansily-Blaizot
Muriel
M
Pissard
Serge
S
Schved
Jean-François
JF
D000293:Adolescent; D005190:Family; D005260:Female; D005820:Genetic Testing; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D015203:Reproducibility of Results
D005914:Globins