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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 investigate the best threshold value of HbA 2 and HbF in the diagnosis of thalassemia by HPLC and to improve the specificity of HPLC for diagnosing carriers of thalassemia and to reduce the misdiagnosis and missed diagnosis. Methods The cases were collected with an average of erythrocyte volume (MCV) ≤82fl and / or mean erythrocyte hemoglobin (MCH) ≤26pg EDTA; 272 anticoagulant 2272; control group MCV> 82fl, MCH> 26pg anticoagulant 1903 . HbA ;; 2 and HbF levels were determined by HPLC method; Common deletion gene of α-thalassemia was detected on HbA ;; 2≤2.5% of blood samples, HbA ;; 2≥3.5% and / or HbF≥2.3% 17 common mutation genes such as CD41-42M, -28M, IVS-2-654M and CD71-72M were detected by reverse dot blot (RDB). Results The detection rate of carriers of α-thalassemia was 90.73% (460/507), HbA; 2> 2.5%, and that of carriers of α-thalassemia was 47.03% (830/1765) ), The difference between the two groups was statistically significant (P <0.001), and the difference between the control group was statistically significant. When HbA ;; 2≥3.8%, the sensitivity and specificity of HPLC in diagnosing β-thalassemia were the best, the detection rate of common mutant β-thalassemia carriers was 99.08% (536/541); when HbF≥2.3% , The detection rate of common mutant β-thalassemia carriers was only 4.00% (1/25); when HbA ;; 2≥3.8% combined with HbF≥2.3%, the detection rate was 98.78% (163/165) The difference between the groups was statistically significant (P <0.001). Conclusion HPLC is an effective method to diagnose β thalassemia. HbA ;; 2≥3.8% and HbF≥2.3% are the best thresholds for the diagnosis of β thalassemia by HPLC. The comprehensive evaluation of β-thalassemia sensitivity and specificity by HPLC is the best.