Indrák K, Divoký V, Brabec V, Indráková J, Svobodová M, Huisman T H
Hematologická klinika, FN a LF Olomouc.
Vnitr Lek. 1993 Oct;39(10):969-78.
In 135 subjects from 54 unrelated families of Czech and Slovak families the authors identified 11 different beta-thalassaemic alleles. In 25 families they proved a IVS I-1 (G-A) mutation. Another 4 "mediterranean" mutations: IVS II-1 (G-A), IVS II-745 (C-G); IVS I-110 (G-A) and mutations in the codon 39 (C-T) were found in 18 families. Mutation IVS I-5 (G-C) found in one family is common in Asia. A frameshift at codons 82/83(-G) found in two families, was described previously only by Schwartz in one families from Azerbaijan. A rare mutation in codon 121 (C-T) is usually characterized as beta-thal. with formation of Heinz bodies. The latter were however found only in one of three families with this allele. Newly detected alleles include: mutation in codon 112 (T-A) found in one family (surprisingly also without formation of Heinz bodies); mutation in CD 115 (GCC-GAC) which results in unstable variant of Hb-Hradec Králové alpha 2 beta 2 115 (G17) Ala-Asp with formation of Heinz bodies and a frame shift in codons 38/39(-C) found in two families. In one of them there was also a new mutation of the promotor area of the G gamma gene (-110 A-C) causing the Swiss type of the disease with hereditary persistence F haemoglobin. The so-called Sicilian type of delta beta thalassaemia caused by deletion of DNA length cca 13 kb starting in IVS-II was found in one patient. alpha-thalassaemic mutations are rare in this population. In addition to common alpha-thalassaemia 2(-3,7 kb) deletion, however, also a new alpha-thalassaemia 2 was found caused by a large (18+kb) deletion involving alpha 1 and theta globin genes. alpha alpha alpha anti 3,7 triplication found in 7 beta-thal. heterozygotes led to deterioration of parameters of the red cell haemogram.
在来自捷克和斯洛伐克54个无亲缘关系家庭的135名受试者中，作者鉴定出11种不同的β地中海贫血等位基因。在25个家庭中，他们证实了IVS I-1（G→A）突变。在18个家庭中发现了另外4种“地中海型”突变：IVS II-1（G→A）、IVS II-745（C→G）、IVS I-110（G→A）以及密码子39（C→T）处的突变。在一个家庭中发现的IVS I-5（G→C）突变在亚洲很常见。在两个家庭中发现的密码子82/83处的移码突变（-G），此前仅由施瓦茨在阿塞拜疆的一个家庭中描述过。密码子121（C→T）处的一种罕见突变通常被表征为伴有亨氏小体形成的β地中海贫血。然而，在具有该等位基因的三个家庭中，仅在其中一个家庭中发现了亨氏小体。新检测到的等位基因包括：在一个家庭中发现的密码子112（T→A）处的突变（令人惊讶的是也没有亨氏小体形成）；CD 115（GCC→GAC）处的突变，导致Hb-赫拉德茨克拉洛韦α2β2 115（G17）Ala-Asp的不稳定变体并伴有亨氏小体形成，以及在两个家庭中发现的密码子38/39处的移码突变（-C）。在其中一个家庭中还发现了Gγ基因启动子区域的一种新突变（-110 A→C），导致瑞士型疾病并伴有遗传性胎儿血红蛋白持续存在。在一名患者中发现了由始于IVS-II的约13 kb DNA长度缺失引起的所谓西西里型δβ地中海贫血。α地中海贫血突变在该人群中很少见。除了常见的α地中海贫血2（-3.7 kb）缺失外，还发现了一种由涉及α1和θ珠蛋白基因的大（18 + kb）缺失引起的新的α地中海贫血2。在7名β地中海贫血杂合子中发现的ααα抗3.7重复导致红细胞血常规参数恶化。
