Masala B, Manca L, Gallisai D, Stangoni A, Lanclos K D, Kutlar F, Yang K G, Huisman T H
Institute of General Physiology and Biochemistry, University of Sassari, Italy.
Hemoglobin. 1988;12(5-6):661-71. doi: 10.3109/03630268808991659.
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.
对来自撒丁岛北部的43例β地中海贫血患者进行了研究，以确定胎儿血红蛋白组成、β珠蛋白基因簇的限制性片段长度多态性单倍型以及突变类型。其中31例为重度且多次输血患者，6例为随访中的婴儿，5例为非输血依赖型轻度地中海贫血成人，还有1例年轻输血患者患有中度严重性疾病。单倍型II最为常见，[86条染色体中有56条（65%）]，单倍型I也相当常见，[86条染色体中有22条（25%）]，而其他类型相对少见。密码子39处的无义突变几乎是唯一的，[80条染色体中有76条（95%）]。其他β地中海贫血突变发生在具有单倍型III、IX、X以及可能的V的染色体上，还有一种与II相关的新类型。突变的AγT基因与II型、X型以及新类型相关。IX型与一个β（0）基因以及Gγ基因5'端的一个Xmn I位点相连，与高Gγ珠蛋白水平以及轻度严重性疾病相关。III型与一个β（+）-地中海贫血基因相关。与II型相关的（0）39突变在3例患者中与中间型地中海贫血相关。
