title: Molecular basis of thalassemia in Qatar.
abstract: There is a paucity of information on the molecular basis of beta-thalassemia (thal) in Qatar, a country in the southern part of the Arabian Gulf. To decipher the molecular spectrum of beta- thalassemic alleles present in Qatar, we studied 31 clinically recognized patients, including three with sickle cell disease and beta-thal, and an additional six cases referred for unexplained microcytic anemia. We found 12 different beta-thalassemic alleles and two yet to be defined alleles, mutations likely occurring elsewhere than in the beta-globin gene per se. This is quite striking, given the small size of the study population, and highlights not only the ethnic diversity, but also the necessity of further investigating the thalassemic spectrum.
authors.affiliation: Biological Sciences Department, Qatar University, Doha, Qatar.
authors.forename: Aisha
authors.initials: A
authors.lastname: Al-Obaidli
authors.forename: Mowafak
authors.initials: M
authors.lastname: Hamodat
authors.forename: Zainab
authors.initials: Z
authors.lastname: Fawzi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abu-Laban
authors.forename: Nathalie
authors.initials: N
authors.lastname: Gerard
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Krishnamoorthy
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011780:Qatar; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D004247:DNA