CAJ | 학술논문

目的：评价琼脂糖凝胶电泳在珠蛋白生成障碍性贫血筛查与诊断中的价值。方法采用琼脂糖凝胶电泳对20041例标本进行血红蛋白分析，PCR结合琼脂糖凝胶电泳和反向点杂交技术对3772例标本进行α-或β-珠蛋白生成障碍性贫血基因检测，ROC曲线HbA2和Hb Bart's的筛查截断值。结果20041例标本中检出珠蛋白生成障碍性贫血和血红蛋白病共2740例（13.7%）。经基因诊断β-珠蛋白生成障碍性贫血重型8例、中间型28例和轻型1594例，以CD41-42、CD17、-28、IVS-Ⅱ-654、CD26、CD71-72和IVS-I-1及其复合最为常见，占97.6%。以HbA2＞3.8筛查轻型β-珠蛋白生成障碍性贫血的灵敏度和特异性为96.3%和98.7%。电泳筛查HbH病和HbCS的准确性为100%，可筛出罕见型HbH病。以Hb Bart's＞12.0%和＞60.9%筛查重型和中间型α-珠蛋白生成障碍性贫血的灵敏度均为100%，特异性为100%和96.8%。结论本地区珠蛋白生成障碍性贫血发生率较高，琼脂糖凝胶电泳能有效的筛出β-珠蛋白生成障碍性贫血，筛查HbH病和HbCS的准确性较好；能有效地检出中间型、重型α-珠蛋白生成障碍性贫血。
목적：평개경지당응효전영재주단백생성장애성빈혈사사여진단중적개치。방법채용경지당응효전영대20041례표본진행혈홍단백분석，PCR결합경지당응효전영화반향점잡교기술대3772례표본진행α-혹β-주단백생성장애성빈혈기인검측，ROC곡선HbA2화Hb Bart's적사사절단치。결과20041례표본중검출주단백생성장애성빈혈화혈홍단백병공2740례（13.7%）。경기인진단β-주단백생성장애성빈혈중형8례、중간형28례화경형1594례，이CD41-42、CD17、-28、IVS-Ⅱ-654、CD26、CD71-72화IVS-I-1급기복합최위상견，점97.6%。이HbA2＞3.8사사경형β-주단백생성장애성빈혈적령민도화특이성위96.3%화98.7%。전영사사HbH병화HbCS적준학성위100%，가사출한견형HbH병。이Hb Bart's＞12.0%화＞60.9%사사중형화중간형α-주단백생성장애성빈혈적령민도균위100%，특이성위100%화96.8%。결론본지구주단백생성장애성빈혈발생솔교고，경지당응효전영능유효적사출β-주단백생성장애성빈혈，사사HbH병화HbCS적준학성교호；능유효지검출중간형、중형α-주단백생성장애성빈혈。
Objective To evaluate the application of agarose electrophoresis in screen of thalassemia(thal). Methods Agarose electrophoresis was used to perform hemoglobin(Hb) electrophoresis for 20 041 cases. DNA analysis of 3772 samples were further examined by PCR combined with Agarose electrophoresis and reverse dot blot. Results Among 20 041 cases, there were 2740 cases detected as thal or abnormal hemoglobin disease. The rate was 13.7%. By NDA analysis,8 were homozygous ofβ-thal, 28 were double heterozygote ofβ-thal, and 1594 were heterozygote of β-thal. The main gene types were CD41-42, CD17, -28, IVS-Ⅱ-654, CD26, CD71-72, IVS-I-1 and the Composite genotype of them, and which accounted for 97.6%. To diagnose heterozygote ofβ-thal by HbA2 above 3.8%, the sensitivity and specificity were 96.3% and 98.7%.The accuracy of screening HbH disease and HbCS was 100%. Meanwhile, rarely HbH disease also can be found. The optimal cutoff values of Hb Bart's for screening ofα-thalassemia intermit and major were 12.0%and 60.9%, and the sensitivity of them was also 100%, and the specificity of each were 100% and 96.8%, respectively. Conclusions The population in Guangxi are at high risk of thalassemia. Agarose electrophoresis is an effective screening method forβ-thal, and it was exact to screen HbH disease and HbCS. women carrying a fetus with Hb Bart's hydrops fetalis syndrome is easy to be found by analysis cord blood.