beta-Thalassemia in Sicily: hematological and biosynthetic studies.
Acta Haematol, 1978;60(4):193-200.
Schilirò G, Musumeci S, Pizzarelli G, Di Gregorio L, Fischer A, Russo G
PMID: 101006
Impact factor: 3.068
Abstract
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.
MeSH terms
Child; Female; Gene Frequency; Genetic Carrier Screening; Genetic Variation; Genotype; Globins; Humans; Male; Phenotype; Protein Precursors; Sicily; Thalassemia
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