title: A Novel Mutation in the Promoter Region of the β-Globin Gene: HBB: c.-127G > C.
abstract: Novel β-globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the β-globin gene and assess its clinical implications. A family, parents and four siblings, with hematological and clinical features suspected of being β-globin gene mutation(s), were involved in this study. In addition to hematological and clinical evaluations of the whole family, molecular analyses of the β-globin gene were performed by direct sequencing. Sequencing of the β-globin gene revealed a novel genomic alteration in the regulatory region of the gene. This novel genomic alteration was defined as HBB: c.-127G > C according to the Human Genome Variation Society (HGVS) nomenclature. Two siblings were found to be carriers of the HBB: c.-127G > C mutation, while the other two siblings were carriers of the codon 8 (-AA) (HBB: c.25_26delAA) deletion of the β-globin gene. The mother was a compound heterozygote for the codon 8 and HBB: c.-127G > C mutations. Based on hematological and clinical evaluations, we conclude that this novel β-globin gene promoter region change would be associated with a mild phenotype of β-thalassemia (β-thal).
authors.affiliation: a Research and Application Centre for Scientific and Technological Investigations, Namik Kemal University , Tekirdag , Turkey.
authors.forename: Turker
authors.initials: T
authors.lastname: Bilgen
authors.affiliation: b Antalya Genetic Diseases Diagnosis Centre , Antalya , Turkey.|c Hemoglobinopathy Diagnostic Centre, Mediterranean Blood Diseases Foundation , Antalya , Turkey.
authors.forename: Duran
authors.initials: D
authors.lastname: Canatan
authors.affiliation: c Hemoglobinopathy Diagnostic Centre, Mediterranean Blood Diseases Foundation , Antalya , Turkey.
authors.forename: Serpil
authors.initials: S
authors.lastname: Delibas
authors.affiliation: d Department of Medical Biology and Genetics , Faculty of Medicine, Akdeniz University , Antalya , Turkey.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Keser
mesh_terms: D006801:Humans; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D055544:beta-Globins
keywords: Keywords β-Globin; promoter region; β-thalassemia (β-thal)