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Alpha thalassaemia in the Maori: a family study
L S Parker1, D Williamson, C S Shepherd
1University of Cambridge Clinical School, England.
Abstract:
Twelve members of a Maori family were investigated for alpha-thalassaemia after a provisional diagnosis of thalassaemia had been made on the basis of chronic hypochromic microcytic red cell indices. Ten family members were shown to have the 3.7 kb deletion form of alpha-thalassaemia; two of these were homozygous for this deletion (-alpha/-alpha); eight had the single deletion (-alpha/alpha alpha). While anaemia was not a significant finding, the degree of hypochromicity and microcytosis correlated well with the alpha globin gene status of individual family members. This and other studies provide evidence that alpha-thalassaemia is a significant contributor to the chronic mild anaemia of the Maori.
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