Gurgey A, Altay C, Diaz-Chico J C, Kutlar F, Kutlar A, Huisman T H
Children's Medical Center, Hacettepe University, Ankara, Turkey.
Acta Haematol. 1989;81(1):22-7. doi: 10.1159/000205394.
A total of 38 patients with beta-thalassemia intermedia from 30 families were were studied. Twelve of the thirty unrelated patients had beta zero-thalassemia which was due to a homozygosity for one of two different thalassemia defects, namely the frameshift at codon 8, and the IVS-II-1 G----A mutation. Another mild variation, a beta +-thalassemia, was a homozygosity for the mutation of T----C at position 6 of IVS-1 (10 patients). Compound heterozygosities for mild thalassemic determinants or for one mild and one severe beta-thalassemic determinant were also found in some patients with beta-thalassemia intermedia. The mutations at beta-39 and IVS-I-110 were the most commonly occurring thalassemic determinants in these patients. Correlations between genotype and phenotype indicated significant differences in some of the hematological parameters among patients with the IVS-I-6 and the frameshift at codon 8, IVS-I-6 and IVS-II-1, and the frameshift at codon 8 and IVS-II-1 mutations.
对来自30个家庭的总共38例中间型β地中海贫血患者进行了研究。30例无亲缘关系的患者中有12例为β0地中海贫血，这是由于两种不同的地中海贫血缺陷之一的纯合性所致，即第8密码子的移码突变和IVS-II-1 G→A突变。另一种轻度变异，即β+地中海贫血，是IVS-1第6位T→C突变的纯合性（10例患者）。在一些中间型β地中海贫血患者中还发现了轻度地中海贫血决定簇的复合杂合性或一个轻度和一个重度β地中海贫血决定簇的复合杂合性。β-39和IVS-I-110的突变是这些患者中最常见的地中海贫血决定簇。基因型与表型之间的相关性表明，IVS-I-6与第8密码子移码突变、IVS-I-6与IVS-II-1以及第8密码子移码突变与IVS-II-1突变的患者在一些血液学参数上存在显著差异。
