东南亚新生儿地中海贫血症和血红蛋白病：毛细管电泳系统的诊断评估。
Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system.
机构信息
Biomedical Science Program, Graduate School, Khon Kaen University, Khon Kaen, Thailand.
出版信息
Clin Biochem. 2011 Apr;44(5-6):406-11. doi: 10.1016/j.clinbiochem.2011.01.006. Epub 2011 Jan 28.
BACKGROUND
We have investigated the Capillarys 2 Hemoglobin testing system to assist in presumptive diagnosis of thalassemia and hemoglobinopathies commonly found in Southeast Asia.
METHODS
Study was conducted on 226 newborns. Hematological parameters were recorded and Hb profiles were examined on the Capillarys 2 Hemoglobin analyzer (SEBIA). DNA analyses were used to establish the final diagnoses.
RESULTS
Among 226 newborns examined, 122 had thalassemias with 17 different genotypes. The capillary electrophoresis system could provide useful data for presumptive diagnoses of cases, especially those with Hb E and α-thalassemia. Hb E was found to be 2.6-6.2% in heterozygote whereas Hb Bart's were clearly observed in cases with compound heterozygous or homozygous α(+)-thalassemia and heterozygous α(0)-thalassemia. Hb H disease and other forms of α-thalassemia could be differentiated based on the presence of Hb Bart's and its percentage.
CONCLUSION
The capillary electrophoresis system is applicable to newborn screening for common forms of thalassemia in Southeast Asia.
背景
我们研究了 Capillarys 2 血红蛋白检测系统，以协助对东南亚常见的地中海贫血症和血红蛋白病进行初步诊断。
方法
对 226 例新生儿进行了研究。记录了血液学参数，并在 Capillarys 2 血红蛋白分析仪（SEBIA）上检查了 Hb 图谱。采用 DNA 分析确定最终诊断。
结果
在检查的 226 例新生儿中，有 122 例为地中海贫血症，有 17 种不同的基因型。毛细管电泳系统可为疑似病例的诊断提供有用的数据，尤其是那些 Hb E 和 α-地中海贫血症的病例。在杂合子中发现 Hb E 为 2.6-6.2%，而在复合杂合子或纯合子 α(+)-地中海贫血症和杂合子 α(0)-地中海贫血症中则明显观察到 Hb Bart's。根据 Hb Bart's 的存在及其百分比，可以区分 Hb H 病和其他形式的 α-地中海贫血症。
结论
毛细管电泳系统适用于东南亚常见地中海贫血症的新生儿筛查。
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