title: A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.
abstract: We have identified three individuals of Greek or Greek Cypriot origin with an atypical form of HbH disease characterized by a severe hypochromic microcytic anaemia associated with relatively small amounts of HbH in the peripheral blood. Molecular analysis has shown that each is a compound heterozygote for a previously described mutation affecting the poly A addition signal (AATAAA-->AATAAG) and a previously undescribed mutation involving a T-->C transition in codon 29 of the alpha 2 gene causing a leucine-->proline substitution. Although this mutation would be expected to produce an unstable haemoglobin and hence a haemolytic anaemia, simple heterozygotes for the alpha 29Leu-->Pro mutation have the phenotype of alpha-thalassaemia trait.
authors.affiliation: MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford.
authors.forename: G W
authors.initials: GW
authors.lastname: Hall
authors.forename: S L
authors.initials: SL
authors.lastname: Thein
authors.forename: A C
authors.initials: AC
authors.lastname: Newland
authors.forename: M
authors.initials: M
authors.lastname: Chisholm
authors.forename: J
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D000328:Adult; D000747:Anemia, Hypochromic / Q000209:etiology; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000737:chemistry; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins; D004247:DNA