title: Biochemical and molecular aspects of beta-thalassemia types in northern Sardinia.
abstract: Forty-three patients with beta-thalassemia from Northern Sardinia (31 severe and polytransfused, six follow-up babies, five adults with mild thalassemia who were not transfusion dependent, and a young transfused patient was also affected by a disease of intermediate severity) were studied in order to establish the fetal hemoglobin composition, restriction fragment length polymorphism haplotypes at the beta-globin gene cluster, and the type(s) of mutation. Haplotype II was prevalent, [56/86 chromosomes (65%)], haplotype I was also fairly common, [22/86 chromosomes (25%)], while other types were relatively rare. The nonsense mutation at codon 39 was nearly exclusive, [76/80 chromosomes (95%)]. Other beta-thalassemia mutations occurred on chromosomes with haplotypes III, IX, X, and perhaps V, and a new type related to II. The mutated A gamma T gene was associated with type II, X, and the new type. Type IX was linked to a beta(0) gene and to an Xmn I site 5' to the G gamma gene, to a high G gamma globin level, and to a disease of mild severity. Type III was associated with a beta(+)-thalassemic gene. The (0)39 mutation linked to type II was associated with thalassemia intermedia in three patients.
authors.affiliation: Institute of General Physiology and Biochemistry, University of Sassari, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Masala
authors.forename: L
authors.initials: L
authors.lastname: Manca
authors.forename: D
authors.initials: D
authors.lastname: Gallisai
authors.forename: A
authors.initials: A
authors.lastname: Stangoni
authors.forename: K D
authors.initials: KD
authors.lastname: Lanclos
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: K G
authors.initials: KG
authors.lastname: Yang
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000293:Adolescent; D000328:Adult; D001803:Blood Transfusion; D002648:Child; D005500:Follow-Up Studies; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007558:Italy; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*