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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.

Original publication

DOI

10.1111/j.1365-2141.1993.tb03346.x

Type

Journal article

Journal

British journal of haematology

Publication Date

11/1993

Volume

85

Pages

546 - 552

Addresses

MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford.

Keywords

Humans, alpha-Thalassemia, Anemia, Hypochromic, Globins, DNA, Codon, Polymerase Chain Reaction, Base Sequence, Mutation, Molecular Sequence Data, Adult, Child, Preschool, Infant, Female, Male