title: A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA).
abstract: The preparation of a prenatal diagnosis in a family of North-African origin in which a child received a bone marrow transplant for β-thalassemia major (β-TM), prompted us to make the molecular diagnosis in the parents and siblings. Molecular and phenotype assays were carried on blood samples from the parents and the proband's sister. The father, a 45-year-old man, was found to be heterozygous for a rare mutation in exon 2 [codon 46 (+A), HBB:c.138_139insA] creating a frameshift, while the mother and sister were found to be carriers of the common codon 39 (C>T) stop mutation (HBB:c.118C>T). Because of the bone marrow transplant, proband genotyping was done from a buccal swab and revealed that he is a compound heterozygote for both the codon 46 and codon 39 mutations. In the parents and sister, hematological parameters were those of a thalassemia minor in agreement with the two β(0) mutations found in the family.
authors.affiliation: Laboratory of Biochemistry and Molecular Genetics, Henri Mondor Hospital (APHP), Creteil, France.
authors.forename: Elyes Slim
authors.initials: ES
authors.lastname: Ghedira
authors.forename: Delphine
authors.initials: D
authors.lastname: Dupin-Deguine
authors.forename: Denis
authors.initials: D
authors.lastname: Duffilot
authors.forename: Nathalie
authors.initials: N
authors.lastname: Lemetayer
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Faubert
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics*; D005190:Family; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D003062:Codon; D055544:beta-Globins