Article
Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr].
American journal of hematology - 1 Nov 1999
Papassotiriou I, Traeger-Synodinos J, Promé D, Kister J, Stamou E, Liakopoulou T, Stamoulakatou A, Kanavakis E, Wajcman H
Abstract excerpt
We report here the functional and structural characterization of Hb Acharnes [beta53(D4) Ala --> Thr], an unstable and electrophoretically silent variant, that was found associated in trans with a beta(0)-thalassemic mutation (IVSI-1 G --> A), in a patient with thalassemia intermedia syndrome. This case is discussed in comparison with other sporadic cases that we have previously investigated, resulting from the...
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