地中海贫血诊断实验的选择在临床的应用价值

Selection and Application of Diagnosis Experiment for Thalassemia

目的探讨地中海贫血不同检测方法的选择及临床诊断应用的价值,针对不同人群建立相对合理的检测程序。方法选择经分子生物学方法确认的215例地中海贫血相关基因携带阳性病例和80例对照组,采用临床常用地中海贫血血液学筛查指标平均红细胞体积(MCV)、红细胞平均血红蛋白量(MCH)、红细胞压积(HCT)、红细胞体积分布宽度(RDW)及红细胞脆性试验(RBC脆性)进行筛查评价。比较跨跃断裂点PCR(Gap-PCR)技术、膜芯片反向点杂交技术、变性高效液相色技术对地中海贫血确认诊断的应用范围。结果 215例地贫相关基因携带阳性病例组与80例对照组MCV、MCH、HCT及RBC脆性检测数据比对分析表明,地贫组与对照组经统计学分析差异均有统计学意义(P<0.01)。常规筛查指标对215例地贫相关基因携带阳性病例组的漏检分析显示,RBC脆性漏检率为2.33%,MCV漏检率为5.58%,MCH漏检率为6.98%,HCT漏检率为15.81%。分子生物学确认实验中Gap-PCR技术仅适用于α-珠蛋白基因缺失的检测,膜芯片反向点杂交技术可适用于α、β-珠蛋白基因突变位点的检测。结论血液学指标MCV、MCH对地贫筛查敏感性较高,可自动化、大批量操作,适合用于大规模健康体检人群的地贫筛查,而RBC脆性试验虽然敏感性高,但为手工操作,建议用于高危人群的筛查。膜芯片反向点杂交技术结合Gap-PCR技术是目前临床地贫基因确认的最佳手段。

Objective To explore the selection and application value of different testing methods in the clinical diagnosis of thalassemia,and establish a rational test procedures for thalassemia diagnosis. Methods Two hundred and fifty five cases of thalassemia identified by molecular biology method（ experimental group） and 80 normal controls（ control group） were detected by hematology screening evaluation（ MCV, MCH, HCT, RDW and RBC brittleness）. The application scope among Gap-PCR, mere, brane chip and HPLC technology in the diagnosis thalassemia were compared. Results There was significantly different in MCV, MCH,HCT,RDW and RBC brittleness between the experimental group and control group. In the routine hematology screening tests for 215 cases of thalassemia,miss rate was2.33% for RBC brittleness,5.58% for MCV,6.98% for MCH and 15.81% for HCT. Gap-PCR technology was effective for gene deletion detection of alpha thalassemia, while the membrane chip technology ap- plies for gene mutations detection of alpha or beta thalassemia. Conclusion MCH and MCV,with a high sensitivity for thalasse- mia screening,can be automatically performed and is suitable for the thalassemia screening in large-scale populations. The RBC, though with brittleness test has high sensitivity, but can only be performed manually, and therefore it was recommended for the screening tests in high-risk patients. The membrane chip technology with Gap-PCR was the best method for the clinical genetic di- agnosis of thalassemia.