Alpha Thalassaemia in Sicily: Haematological and Biosynthetic Studies
- 1 November 1979
- journal article
- research article
- Published by Wiley in British Journal of Haematology
- Vol. 43 (3) , 413-422
- https://doi.org/10.1111/j.1365-2141.1979.tb03768.x
Abstract
Eight Sicilian patients with Hb H disease and their families were studied. The standard hematological tests and the .alpha./.beta. chain synthesis ratios showed significantly different results in patients with Hb H disease as compared with .alpha. thalassemia carriers, except for Hb A2 values. There was no significant difference in the mean RBC [red blood cell count], MCV [mean corpuscular volume], Hb A2, Hb A1 and Hb F of .alpha. thalassemia carriers compared with normal controls. A significant difference was found between the mean .alpha./.beta. chain synthesis ratio of .alpha. thalassemia carriers and that of the normal controls; extensive overlapping of .alpha./.beta. values between these 2 conditions makes this parameter insufficiently discriminant. No correlation was found between MCV, MCH [mean corpuscular Hb], RBC and .alpha./.beta. chain synthesis ratio in patients with .alpha. thalassemia trait, suggesting that the ratio cannot be used to distinguish between carriers of a mild gene (silent carrier) and carriers of the more severe .alpha. thalassemia gene. A possible genetic model for .alpha. thalassemia in Sicily was presented.This publication has 30 references indexed in Scilit:
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