Rosatelli M C, Faà V, Meloni A, Fiorenza F, Galanello R, Gasperini D, Amendola G, Cao A
Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Italy.
Br J Haematol. 1995 Jun;90(2):483-5. doi: 10.1111/j.1365-2141.1995.tb05182.x.
This study describes the clinical phenotype of the C-->T mutation at position -92 of the beta-globin gene. Excluding two cases with HbA2 levels within the range of the beta-thalassemia carrier state, heterozygotes for this mutation showed normal or borderline red blood cells count, Hb levels, MCV, MCH and HbA2 values, and unbalanced globin chain synthesis. Compound heterozygotes for the -92 C-->T mutation and a beta zero-thalassaemia mutation (beta zero 39) (two cases) or severe beta+-thalassaemia (beta+ IVSII nt 745) (two cases) developed thalassaemia intermedia. According to these characteristics, the -92 promoter mutation should be added to the list of silent beta-thalassaemias.
本研究描述了β-珠蛋白基因-92位C→T突变的临床表型。排除两例HbA2水平处于β-地中海贫血携带者状态范围内的病例，该突变的杂合子红细胞计数、Hb水平、MCV、MCH和HbA2值正常或接近临界值，且珠蛋白链合成不平衡。-92 C→T突变与β0-地中海贫血突变（β0 39）（2例）或重度β+地中海贫血（β+ IVSII nt 745）（2例）的复合杂合子发展为中间型地中海贫血。根据这些特征，-92启动子突变应添加到静止型β-地中海贫血列表中。
