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α‐Thalassaemia and globin gene rearrangements in French Polynesia
Author(s) -
Philippon G.,
Martinson J. J.,
Rugless M. J.,
MouliaPelat J. P.,
Plichart R.,
Roux J.F.,
Martin P. M. V.,
Clegg J. B.
Publication year - 1995
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1995.tb00246.x
Subject(s) - genotype , genetics , gene , heterozygote advantage , biology , hemoglobinopathy , globin , hemolytic anemia , immunology
The prevalence of α‐thalassaemia and various globin gene rearrangements was determined in 1992 individuals living on 11 islands in French Polynesia. The gene frequencies for α+ ‐thalassaemia (almost exclusively the ‐α 3.7 III deletion form) range from 5.3% to 19.2%. Haematological indices on 177 heterozygotes and 27 homozygotes for the ‐α 3.7 III variant showed considerable overlap with indices of normal individuals; although there was a broad correlation of average indices with α‐globin genotype, individual values were a poor indication of genotype. A non‐deletion form of α+ ‐thalassaemia (αα Th ), triplicated α genes (ααα) and single zeta gene (‐ζ) chromosomes were present at low frequencies (< 1%), whereas triplicated γ gene (γγγ) and triplicated ζ (ζζζ) arrangements were more common (1.1–16.3%). α 0 ‐thalassaemia, probably introduced from Southeast Asia in the early part of this century, was observed in a number of individuals of Chinese and Chinese/Polynesian ancestry. Because of the high frequency of α+ ‐Thalassaemia on some islands, it therefore seems likely that haemoglobin H disease (resulting from the interaction between α 0 and α+ ‐thalassaemia) must occur in parts of French Polynesia.