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Alpha-thalassemia in two Mediterranean populations
| Content Provider | Scilit |
|---|---|
| Author | Pirastu, M. Lee, Ky Kan, Yw Stamatoyannopoulos, G. Hadjiminas, Mg Zachariades, Z. Angius, A. Furbetta, M. Rosatelli, C. Cao, A. |
| Copyright Year | 1982 |
| Description | 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. |
| Related Links | https://ashpublications.org/blood/article-pdf/60/2/509/211159/509.pdf |
| Ending Page | 512 |
| Page Count | 4 |
| Starting Page | 509 |
| DOI | 10.1182/blood.v60.2.509.bloodjournal602509 |
| Journal | Blood |
| Issue Number | 2 |
| Volume Number | 60 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1982-08-01 |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Mediterranean Incidence Frequency Beta Thalassemia Alpha Thalassemia Homozygotes Deleted Journal: Blood (Vol- 50, Issue- 2) |
| Content Type | Text |
| Resource Type | Article |
