title: Novel mutations responsible for α-thalassemia in Iranian families.
abstract: α-Thalassemia (α-thal) is usually caused by deletions on the α-globin gene cluster and the role of point mutations is less well investigated. In the present study, a total of 1048 individuals with hypochromic microcytic anemia, who did not present the most common α-thal deletions, were referred for α-globin gene DNA sequencing. The nucleotide changes were studied and a total of five new mutations was identified, of which three were located on the α2 gene [codon7 (Lys→Stop), codon 34 (Leu→Pro) and codon 83 (Leu→Arg)] and two on the α1 gene [IVS-I-116 (A>G) and codon 44 (+C)]. These novel mutations not only explain new findings by molecular analysis of the α-globin gene but also have clinical importance due to their changes in α-globin production in means of decreased hemoglobin (Hb) related values. Moreover, considerations of its role in combination with other mutations, and the possibility of causing Hb H (β4) are yet to be studied.
authors: Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.
authors: Nooshin
authors: N
authors: Bayat
authors: Samaneh
authors: S
authors: Farashi
authors: Nima
authors: N
authors: Hafezi-Nejad
authors: Negin
authors: N
authors: Faramarzi
authors: Mehri
authors: M
authors: Ashki
authors: Shadi
authors: S
authors: Vakili
authors: Hashem
authors: H
authors: Imanian
authors: Mohsen
authors: M
authors: Khosravi
authors: Azita
authors: A
authors: Azar-Keivan
authors: Hossein
authors: H
authors: Najmabadi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D005843:Geography; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation; D015995:Prevalence; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins