We report our work on prenatal diagnosis of α-thalassemia, β-thalassemia and other hemoglobinopathies in southern Thailand. DNA-based diagnosis was offered to 1906 pregnancies at risk for thalassemia using a combination method of multiplex-PCR and reverse dot blot analysis to detect seven α-globin and 47 β-globin mutations. The most commonly detected mutation of α0-thalassemia was a South-East Asian deletion (98%), followed by a Thai deletion (2%). Twenty-eight β-globin mutations were identified. Fourteen common mutations, including cod 19 A-G (18.6%), cod 41/42 -TCTT (14.4%), IVS1#5 G-C (13.2%), 3.5 kb deletion (9.2%), cod 17 A-T (7.7%), -28 A-G (7.3%), IVSI#1 G-T (7.1%), 12.5 kb deletion (δβ)0 (5.7%), HPFH6 (4.2%), IVS2#654 C-T (2.7%), 45 kb deletion (1.9%), Asian Indian-inversion-deletion Gγ(Aγδβ)0 (1.6%), cod 41 -C (1.5%) and cod 71/72 +A (1.3%) were detected, accounting for 96.5% of all mutations detected. The most common hemoglobin variant was Hb E, accounting for 97.86%. Prenatal diagnosis of 1906 couples at risk showed 22.0% normal, 51.2% carrier and 26.8% affected. The present study provides important information for diagnosis and control of severe thalassemia diseases.

中文翻译：

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泰国南部α和β地中海贫血的产前诊断。

我们报告了泰国南部α-地中海贫血，β-地中海贫血和其他血红蛋白病的产前诊断工作。使用多重PCR和逆点印迹分析相结合的方法，可以检测1906名地中海贫血孕妇的DNA诊断结果，以检测7个α-珠蛋白和47个β-珠蛋白突变。最常见的α0地中海贫血突变是东南亚缺失（98％），其次是泰国缺失（2％）。鉴定出28个β-珠蛋白突变。14个常见突变，包括cod 19 AG（18.6％），cod 41/42 -TCTT（14.4％），IVS1＃5 GC（13.2％），3.5 kb缺失（9.2％），cod 17 AT（7.7％），- 28 AG（7.3％），IVSI＃1 GT（7.1％），12.5 kb缺失（δβ）0（5.7％），HPFH6（4.2％），IVS2＃654 CT（2.7％），45 kb缺失（1.9％） ，亚洲印第安人反演删除率Gγ（Aγδβ）0（1.6％），鳕鱼41 -C（1.5％）和鳕鱼71/72 + A（1。检测到3％），占所有检测到的突变的96.5％。最常见的血红蛋白变异是Hb E，占97.86％。产前诊断的1906对有风险的夫妇显示正常的22.0％，携带者的51.2％和受影响的26.8％。本研究为重度地中海贫血疾病的诊断和控制提供重要信息。