beta-Thalassemia in Sicily: hematological and biosynthetic studies.

The degree of imbalance in beta(0)-Th and beta(+)-Th as well as the frequency of the two forms in Sicilian beta-thalassemic subjects have been studied. The hemoglobin synthesis in Rietti-Greppi-Micheli disease (RGMD) and in the beta-thalassemia trait has also been studied. In an unselected thalassemic population, about 30% have been found to be beta(0)-Th. Both groups of beta(0)-Th and beta(+)-Th showed severe imbalance with alpha/non-alpha ratio of 4.22 +/- 1.88 (SD) and 3.46 +/- 1.36, respectively. This difference was not statistically significant. In RGMD the alpha/non-alpha ratio was 2.12 +/- 0.36 while in the beta thalassemia trait it was 1.76 +/- 0.35.