摘要
目的探讨高效液相色谱法(HPLC)诊断地中海贫血的HbA;;2和HbF最佳阈值,提高HPLC诊断地贫携带者特异性,减少漏诊与误诊。方法病例组收集平均红细胞体积(MCV)≤82fl和/或平均红细胞血红蛋白含量(MCH)≤26pg的EDTA;;2K2抗凝血2272份;对照组收集MCV>82fl,MCH>26pg抗凝血1903份。用HPLC方法测定血红蛋白亚型HbA;;2和HbF含量;对HbA;;2≤2.5%血样进行α地中海贫血常见缺失型基因检测,对HbA;;2≥3.5%和/或HbF≥2.3%血样采用反向点杂交(RDB)法进行CD41-42M,-28M,IVS-2-654M,CD71-72M等17种常见突变基因检测。结果当HbA;;2≤2.5%,α地贫携带者检出率为90.73%(460/507);HbA;;2>2.5%,α地贫携带者检出率为47.03%(830/1765),两组差别有统计意义(P<0.001),与对照组差别有统计意义。当HbA;;2≥3.8%时,HPLC诊断β地贫的灵敏度和特异度最佳,常见突变型β地贫携带者的检出率为99.08%(536/541);当HbF≥2.3%时,常见突变型β地贫携带者的检出率仅为4.00%(1/25);当HbA;;2≥3.8%结合HbF≥2.3%时,检出率98.78%(163/165),三组间比较差别有统计意义(P<0.001)。结论 HPLC是诊断β地贫的有效方法。HbA;;2≥3.8%且HbF≥2.3%为HPLC诊断β地贫的最佳阈值,HPLC诊断β地贫敏感度与特异度的综合评价性能最理想。
Objective： To determine the best thresholds of HbA2 and HbF for diagnosis β-thalassemia by high-performance liquid chromatography（HPLC）.Methods： To collecte 2272 anticoagulant blood samples which MCV≤82 fl,MCH ≤26 pg in the pantient group,and collecte 1903 anticoagulant blood samples which MCV82 fl and/or MCH26 pg in the control group.Then the HbF content and the HbA2 content of blood samples were detected by HPLC;α-thalassemia was tested in PCR;β-thalassemia was tested in PCR and reverse dot blot（RDB）.Results： If the thresholds was HbA2≤2.5%,the rate of α-thalassemia was 90.73%（460/507）in the pantient goup;if the thresholds was HbA2≥2.5%,the rate was 47.03%（830/1765）.There are significant diffrence（P0.001）.when the best thresholds was HbA2≥3.8%,the evalution index results was best.If HbF≥2.3%,HbA2≥3.8%and HbF≥2.3%,HbA2≥3.8% the rate of β-thalassemia was respectively4.00%（1/25）、 98.78%（163/165）、99.08%（536/541）.There are significant diffrence（P0.001）.Conclusion： HPLC is a good way to diagonosis thalassemia.If the thresholds of HbA2 and HbF is HbA2≥3.8% and HbF≥2.3%,susceptibility and Specificity of β-thalassemiais test is higer.
出处
《中国优生与遗传杂志》
2011年第7期37-39,共3页
Chinese Journal of Birth Health & Heredity
基金
国家十一五科技支撑计划(2006BAI05A02)
广东省计生委基金(2008003
2008011
2009208)
