Masala, Bruno Lucio and Manca, Laura and Gallisai, Domenico Pietro Paolo and Stangoni, Arnaldo and Lanclos, Kenneth D. and Kutlar, Ferdane and Yang, K. G. and Huisman, Titus H. J. (1988) Biochemical and molecular aspects of β-thalassemia types in Northern Sardinia. Hemoglobin, Vol. 12 (5-6), p. 661-671. eISSN 1532-432X. Article.
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Forty-three patients with β-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 1ength polymorphisin haplotypes at the β-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 β-thalassemia mutations occurred on chromosomes with haplotypes 111, IX, X, and perhaps V, and a new type related to II. The mutated AγT gene was associated with type type II, X, and the new type. Type IX was linked to a βd gene and to an Xmn I site 5' to the Gγ gene, to a high Gγ globin level, and to a disease of mild severity. Type I11 was associated with a β++-thalassemic gene. The d39 mutation linked to type I1 was associated with thalassemia intermedia in three patients.
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