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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.

Type

Journal article

Journal

Br J Haematol

Publication Date

1993

Volume

85

Pages

546 - 552

Keywords

Adult Anemia, Hypochromic/etiology Base Sequence Case Report Child, Preschool Codon/*genetics DNA/chemistry Female Globins/*genetics Human Infant Male Molecular Sequence Data Mutation/*genetics Polymerase Chain Reaction alpha-Thalassemia/complications/*genetics