Pyae Aye Chan, Srivorakun Hataichanok, Chaibunruang Attawut, Singha Kritsada, Tomanakarn Kanchana, Fucharoen Goonnapa, Fucharoen Supan
Medical Technology Program, Graduate School, 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.
Hemoglobin. 2019 Jul-Sep;43(4-5):254-257. doi: 10.1080/03630269.2019.1675688. Epub 2019 Oct 10.
To provide the molecular information on hemoglobinopathies in the Myanmar population, the study was carried out on Myanmar workers in Khon Kaen Province in northeast Thailand. A total of 300 anonymous Myanmar factory workers were randomly recruited during their annual medical checkup. Hemoglobinopathies were identified using hemoglobin (Hb) and DNA analyses. These identified heterozygous α-thalassemia (α-thal) [- - (Southeast Asian) deletion] ( = 5, 1.7%), heterozygous α-thal ( = 103, 34.3%), homozygous α-thal ( = 12, 4.0%), heterozygous β-thalassemia (β-thal) ( = 3, 1.0%), heterozygous β-thal with homozygous α-thal ( = 2, 0.7%), double heterozygous β-thal/α-thal ( = 1, 0.3%)], heterozygous Hb E (: c.79G>A) with α-thal/α-thal ( = 1, 0.3%), heterozygous Hb E ( = 27, 9.0%), heterozygous Hb E with α-thal ( = 24, 8.0%), homozygous Hb E with α-thal/α-thal ( = 1, 0.3%), homozygous Hb E ( = 3, 1.0%) and homozygous Hb E with heterozygous α-thal ( = 3, 1.0%). No thalassemia defect was found in the remaining 115 subjects (38.4%). Haplotypes associated with Hb E and Hb Dhonburi (or Hb Neapolis) [β126(H4)Val→Gly, codon 126 (T>G), : c.380T>G] are reported. While the proportions of α-thal, β-thal and Hb E are comparable to those described in neighboring countries, a markedly high prevalence of α-thal (48.6% in total) is unexpected. The molecular information obtained should provide necessary information for diagnostic improvement and planning of a prevention and control program of severe thalassemia in the Myanmar population.
为了获取缅甸人群血红蛋白病的分子信息，该研究对泰国东北部孔敬府的缅甸工人展开。在年度体检期间，共随机招募了300名匿名的缅甸工厂工人。通过血红蛋白（Hb）和DNA分析来鉴定血红蛋白病。这些被鉴定出的类型包括杂合子α地中海贫血（α-地贫）[- -（东南亚型）缺失]（n = 5，1.7%）、杂合子α-地贫（n = 103，34.3%）、纯合子α-地贫（n = 12，4.0%）、杂合子β地中海贫血（β-地贫）（n = 3，1.0%）、杂合子β-地贫合并纯合子α-地贫（n = 2，0.7%）、双重杂合子β-地贫/α-地贫（n = 1，0.3%）、杂合子Hb E（: c.79G>A）合并α-地贫/α-地贫（n = 1，0.3%）、杂合子Hb E（n = 27，9.0%）、杂合子Hb E合并α-地贫（n = 24，8.0%）、纯合子Hb E合并α-地贫/α-地贫（n = 1，0.3%）、纯合子Hb E（n = 3，1.0%）以及纯合子Hb E合并杂合子α-地贫（n = 3，1.0%）。其余115名受试者（38.4%）未发现地中海贫血缺陷。报告了与Hb E和Hb Dhonburi（或Hb Neapolis）[β126（H4）Val→Gly，密码子126（T>G），: c.380T>G]相关的单倍型。虽然α-地贫、β-地贫和Hb E的比例与邻国描述的比例相当，但α-地贫的显著高患病率（总计48.6%）出乎意料。所获得的分子信息应为改善缅甸人群严重地中海贫血的诊断以及制定预防和控制计划提供必要信息。
