A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.
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.
Hall
G W
GW
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford.
Thein
S L
SL
Newland
A C
AC
Chisholm
M
M
Traeger-Synodinos
J
J
Kanavakis
E
E
Kattamis
C
C
Higgs
D R
DR
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*
D003062:Codon; D005914:Globins; D004247:DNA