title: Alpha-thalassaemia and globin gene rearrangements in French Polynesia.
abstract: The prevalence of alpha-thalassaemia and various globin gene rearrangements was determined in 1992 individuals living on 11 islands in French Polynesia. The gene frequencies for alpha(+)-thalassaemia (almost exclusively the -alpha 3.7III deletion form) range from 5.3% to 19.2%. Haematological indices on 177 heterozygotes and 27 homozygotes for the -alpha 3.7III variant showed considerable overlap with indices of normal individuals; although there was a broad correlation of average indices with alpha-globin genotype, individual values were a poor indication of genotype. A non-deletion form of alpha(+)-thalassaemia (alpha alpha Th), triplicated alpha genes (alpha alpha alpha) and single zeta gene (-zeta) chromosomes were present at low frequencies (< 1%), whereas triplicated gamma gene (gamma gamma gamma) and triplicated zeta (zeta zeta zeta) arrangements were more common (1.1-16.3%). alpha 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 alpha(+)-Thalassaemia on some islands, it therefore seems likely that haemoglobin H disease (resulting from the interaction between alpha 0 and alpha(+)-thalassaemia) must occur in parts of French Polynesia.
authors.affiliation: Institut Malardé, Tahiti, French Polynesia.
authors.forename: G
authors.initials: G
authors.lastname: Philippon
authors.forename: J J
authors.initials: JJ
authors.lastname: Martinson
authors.forename: M J
authors.initials: MJ
authors.lastname: Rugless
authors.forename: J P
authors.initials: JP
authors.lastname: Moulia-Pelat
authors.forename: R
authors.initials: R
authors.lastname: Plichart
authors.forename: J F
authors.initials: JF
authors.lastname: Roux
authors.forename: P M
authors.initials: PM
authors.lastname: Martin
authors.forename: J B
authors.initials: JB
authors.lastname: Clegg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D015321:Gene Rearrangement; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D011114:Polynesia / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics
chemical_list: D005914:Globins