Objective: To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region.
Methods: Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed.
Results: A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, βN/ βN, HKαα/αα, β-28/ βN, HKαα/αα, β-50/ βN, HKαα/αα, βCD17/ βN, HKαα/αα, βCD27/28/β N, HKαα/αα, βCD41-42/ βN, HKαα/αα, βCD71-72/ βN, and HKαα/αα, βN/ βN). Except for most cases with HKαα/αα, βN/ βN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia.
Conclusion: HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.
题目: 广西桂南地区 HKαα基因类型及血液学特征分析.
目的: 了解广西桂南地区地中海贫血基因 HKαα的检出率及其血液学表型，为本地区地中海贫血防控及优生优育咨询提供参考依据。.
方法: 对广西桂南地区各个市县（区）进行婚前医学检查、孕前优生健康检查、产前检查和住院的地中海贫血初筛阳性人员行基因检测，并对检测结果进行分析。.
结果: 本次研究共纳入183 190例进行地中海贫血检测的人员，年龄主要集中在26-35岁（101 709例，占55.521%）；共检测出 HKαα突变40例，检出率为0.022%，其中南宁市5例（0.005%），钦州市22例（0.069%），防城港市2例（0.023%），北海市11例（0.085%）；共有29个民族纳入调查范围，但暂时只在汉族（0.0380%）、壮族（0.0068%）中检测出 HKαα基因。本次共检测出8种携带 HKαα突变的基因类型，分别是 HKαα/--SEA， βN/ βN、 HKαα/αα， β-28/ βN、 HKαα/αα， β-50/ βN、 HKαα/αα， βCD17/ βN、 HKαα/αα， βCD27/28/ βN、 HKαα/αα， βCD41-42/ βN、 HKαα/αα， βCD71-72/ βN、 HKαα/αα， βN/ βN，除基因型为 HKαα/αα， βN/ βN的大部分人员血液学指标无明显变化外，其余基因类型的平均红细胞体积、平均红细胞血红蛋白量降低，呈小细胞低色素性表现，轻度贫血或无贫血。.
结论: HKαα携带常被误诊为-α3.7携带，易造成漏诊或误诊，需不断提高实验室检测人员及遗传咨询医生诊断水平，避免不必要的介入性穿刺手术和中重型地中海贫血患儿的出生。.
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