title: Homozygosity for a rare beta 0-thalassemia mutation [frameshift codons 25/26 (+T)] causes beta-thalassemia intermedia in an Iranian family.
abstract: The severity of beta-thalassemia (beta-thal) is remarkable for its variability in different populations, even in different patients. We studied a family from Azerbaijan Province, Northwestern Iran, who had a rare beta(0)-thal mutation, namely the frameshift codons (FSC) 25/26 (+T), originally reported in Tunisia. Unlike the Tunisian family, in our family the mutation was a beta(0) type and the affected members were dependent and independent of blood transfusions. This mutation was linked to the -158 (C>T) polymorphism on the (G)gamma-globin gene (XmnI marker) and two other polymorphisms in the (A)gamma-globin promoter at position +25 (G>A) and -588 (G>A). Deletions in the alpha- and beta-globin gene clusters were excluded in all samples. This is the first description of the FSC 25/26 mutation in Iran. The results of this study emphasize the complexity of genetic interactions that underlie the phenotype of beta-thal intermedia and highlight the importance of the regulation of hemoglobin (Hb) F production in the beta-thal syndromes. Simultaneous inheritance of some loci that interfere with the elevation of Hb F probably caused them to have high levels of total Hb and to be transfusion independent.
authors.affiliation: Department of Biology-Genetics, Science Faculty, Tabriz University, Tabriz, Iran.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Haghi
authors.forename: Abbas A Hosseinpour
authors.initials: AA
authors.lastname: Feizi
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Nasser
authors.initials: N
authors.lastname: Pouladi
authors.forename: Mohammad A Hosseinpour
authors.initials: MA
authors.lastname: Feizi
mesh_terms: D001803:Blood Transfusion; D005192:Family Health; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D007492:Iran; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*; D055545:gamma-Globins / Q000235:genetics
chemical_list: D055544:beta-Globins; D055545:gamma-Globins