title: Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations.
abstract: In this paper we report an unusual Sardinian family, in which the heterozygosity for beta zero 39-thalassaemia and for triple alpha-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA2 thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a delta+27-thalassaemia point mutation, which in trans to the beta zero 39 defect invariably normalizes the HbA2 levels.
authors: Istituto CNR per lo Studio della Patologia del Sangue, Sassari, Italy.
authors: L
authors: L
authors: Oggiano
authors: E
authors: E
authors: Rimini
authors: L
authors: L
authors: Frogheri
authors: L
authors: L
authors: Guiso
authors: P
authors: P
authors: Pistidda
authors: M
authors: M
authors: Longinotti
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D005914:Globins