Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand
J Clin Pathol. 2019 Apr;72(4):322-324. doi: 10.1136/jclinpath-2018-205525. Epub 2019 Jan 10.
Interaction of β-globin gene with an in trans β-thalassaemia gene leads to thalassaemia syndrome, known as haemoglobin (Hb) E-β-thalassaemia disease, with variable clinical and haematological severity. Here, we reported for the first time the Hb E-β-thalassaemia syndrome caused alternatively by an in cis interaction of β and a novel IVSI#7;A>G mutation, namely the Hb E-Udon Thani (HBB:c.[79G>A;92+7 A>G]). The syndrome was found in an adult Thai man (32) who was generally healthy but had an unexplained hypochromic microcytosis. Hb analysis identified heterozygous Hb E with very low Hb E expression (3.1%) and elevated Hb A (5.7%). Final diagnosis was made on DNA analysis, which confirmed a double mutation in a single β-globin gene of the patient. A multiplex allele-specific PCR assay was developed for use in the screening of this novel form of Hb E-β-thalassaemia in the population.
β-珠蛋白基因与反式β-地中海贫血基因的相互作用导致地中海贫血综合征，即血红蛋白（Hb）E-β-地中海贫血病，其临床表现和血液学严重程度存在差异。在这里，我们首次报道了由β-珠蛋白基因的顺式相互作用和一种新的 IVSI#7;A>G 突变（即 Hb E-Udon Thani [HBB:c.[79G>A;92+7 A>G]）引起的 Hb E-β-地中海贫血综合征。该综合征发生在一名成年泰国男性（32 岁）身上，他总体健康，但存在不明原因的低色素性小红细胞症。血红蛋白分析发现杂合子 Hb E 表达非常低（3.1%），Hb A 升高（5.7%）。最终通过 DNA 分析确诊，该患者的单个β-珠蛋白基因中存在双重突变。我们开发了一种多重等位基因特异性 PCR 检测方法，用于筛查该人群中这种新型 Hb E-β-地中海贫血。
