Thalassemia-like abnormalities of the red cell membrane in hemoglobin E trait and disease

Autor: Evelyne Dorléac, L Morle, O. Gentilhomme, Jacques Delaunay, C. Baudonnet, P. Jaccoud
Rok vydání: 1984
Předmět:
Zdroj: American Journal of Hematology. 16:207-217
ISSN: 1096-8652
0361-8609
DOI: 10.1002/ajh.2830160302
Popis: In recent studies, we observed a decrease of KMapp, an abnormally biphasic kinetics of the red cell membrane neutral phosphatase and an increased binding of hemoglobin to the membrane in various forms of beta-thalassemia. Since the gene encoding the beta chain (beta E chain) of hemoglobin E (HbE) is endowed with some thalassemic characteristics, we studied the erythrocyte membrane in 25 individuals with Hb E trait or disease. The apparent Michaelis-Menten constant for p-nitrophenylphosphate (the artificial substrate used) was significantly decreased, as in beta-thalassemia. However, the kinetics was monophasic in all the heterozygotes and in four of the homozygotes. It was biphasic only in the three other homozygotes. Vmax was also significantly reduced, a fact that is masked, when not reversed in beta-thalassemia, owing to the rejuvenation of the red cell population. In 5 mM phosphate buffer (pH 8.00), the binding of Hb E to the erythrocyte ghosts was increased in the homozygotes. In the heterozygotes, Hb A binding was also increased, as is the case in beta-thalassemia. This latter fact suggests that the membrane binding site(s) of hemoglobin is (are) altered. We found a highly significant increase of Hb F in EE subjects. The present study extends to the red cell membrane the beta-thalassemic phenotype associated with the beta E gene.
Databáze: OpenAIRE
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