Abstract：
:We 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.
journal_name
Bloodjournal_title
Bloodauthors
Pirastu M,Lee KY,Dozy AM,Kan YW,Stamatoyannopoulos G,Hadjiminas MG,Zachariades Z,Angius A,Furbetta M,Rosatelli C,Cao Asubject
Has Abstractpub_date
1982-08-01 00:00:00pages
509-12issue
2eissn
0006-4971issn
1528-0020journal_volume
60pub_type
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