title: Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr].
abstract: 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 co-inheritance of a beta(0)-thalassemic mutation (CD39 C --> T) with two other types of unstable hemoglobins, Hb Köln [beta98(FG5) Val --> Met], and Hb Arta [beta45(CD4) Phe --> Cys]. It may be concluded that, in these associated forms, both the degree of instability of the variant and the altered oxygen binding properties (affecting the degree of tissue hypoxia) are major determinants of their clinical expression.
authors.affiliation: Department of Clinical Biochemistry, "Aghia Sophia" Children's Hospital, Athens, Greece.
authors.forename: I
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: J
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: D
authors.initials: D
authors.lastname: Promé
authors.forename: J
authors.initials: J
authors.lastname: Kister
authors.forename: E
authors.initials: E
authors.lastname: Stamou
authors.forename: T
authors.initials: T
authors.lastname: Liakopoulou
authors.forename: A
authors.initials: A
authors.lastname: Stamoulakatou
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: H
authors.initials: H
authors.lastname: Wajcman
mesh_terms: D002648:Child; D004247:DNA / Q000032:analysis; D004921:Erythropoietin; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D010101:Oxygen Consumption; D011990:Receptors, Transferrin; D017086:beta-Thalassemia / Q000097:blood*
chemical_list: D006455:Hemoglobins, Abnormal; D011990:Receptors, Transferrin; D004921:Erythropoietin; D004247:DNA