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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




Journal article


Br J Haematol

Publication Date





546 - 552


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