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pubmed-article:7093530pubmed:abstractTextWe used restriction endonuclease analysis to determine the incidence of alpha-thalassemia in two Mediterranean islands. In a random population sample, the gene frequency of deletion-type alpha-thalassemia-2 (-alpha) was 0.18 in Sardinians and 0.07 in Greek Cypriots. All cases were the rightward crossover type. From these frequencies and the known incidence of hemoglobin-H disease in these populations, we calculated the frequency of the alpha-thalassemia-1 genotype (--) and determined that it was low. We also found that beta-thalassemia homozygotes in sardinia have a higher incidence of alpha-thalassemia than normals and beta thalassemia heterozygotes because a significantly greater number of these homozygotes are also homozygous for the alpha-thalassemia-2 lesion. These findings support the theory that coinheritance of alpha-thalassemia mitigates the severity of beta-thalassemia and suggest that the protection is most pronounced when two alpha-globin genes are deleted.lld:pubmed
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pubmed-article:7093530pubmed:pagination509-12lld:pubmed
pubmed-article:7093530pubmed:dateRevised2007-11-14lld:pubmed
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pubmed-article:7093530pubmed:articleTitleAlpha-thalassemia in two Mediterranean populations.lld:pubmed
pubmed-article:7093530pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:7093530pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
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