title: Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.
abstract: We report a Swiss-Spanish family three members of which have the clinical picture of thalassemia intermedia. Restriction endonuclease mapping of the alpha-globin cluster and digestion with Mae I of the in vitro amplified 5' segment of the beta-globin gene shows a combination of triplicated alpha globin locus, anti-3.7 kb type, with heterozygous codon 39 C----T beta (0) thalassemic mutation. These, as well as 16 similar cases reported in the literature, permit the following conclusion: a single extra alpha-globin gene gives rise to a clinically significant degree of dyserythropoietic anemia only when it interacts with a severe beta(+) or beta(0) thalassemic mutation.
authors.affiliation: Abteilung Hämatologie, Universitäts-Spital Genf, Schweiz.
authors.forename: P
authors.initials: P
authors.lastname: Beris
authors.forename: R
authors.initials: R
authors.lastname: Darbellay
authors.forename: A
authors.initials: A
authors.lastname: Hochmann
authors.forename: E
authors.initials: E
authors.lastname: Pradervand
authors.forename: P
authors.initials: P
authors.lastname: Pugin
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins