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目的探讨造成缺失型α地中海贫血(α地贫)漏检的现象与原因防范此类事件的发生。方法采用红细胞平均体积(MCV)、红细胞脆性实验和血红蛋白(Hb)电泳联合进行筛查,阳性者用多重PCR(mPCR)及DNA芯片反向斑点杂交(ASO/RBD-PCR)检测技术有针对性的进行α或β地贫基因检测。结果发现7例缺失型α地贫在以上检测体系中漏检,其均为α地贫合并β地贫复合型双重杂合子,MCV(66.5±7.6)fl、红细胞脆性(29±16)%,HbA2(5.69±1.03)%。结论当α地贫合并β地贫复合型双重杂合子时,常规筛查HbA2均出现升高,容易给检测人员造成单纯β地贫的假象,而只针对其进行β地贫基因检测而忽视了α地贫基因检测,造成了此类缺失型α地贫的漏检。
Objective To investigate the causes and causes of missing events in the detection of missing α-thalassemia (α thalassemia). Methods MCV, erythrocyte fragility test and hemoglobin (Hb) electrophoresis were used for screening. The positive rate was determined by multiplex PCR (mPCR) and DNA chip reverse dot blot hybridization (ASO / RBD-PCR) For alpha or beta thalassemia gene testing. The results showed that 7 cases of missing α-thalassemia were undetected in the above detection system, which were both α-thalassemia combined with β-thalassemia double heterozygote, MCV 66.5 ± 7.6 fl, erythrocyte fragility 29 ± 16% HbA2 (5.69 ± 1.03)%. Conclusions When α-thalassexia combined with β-thalassemia double heterozygote, HbA2 is increased in routine screening, and it is easy to cause the illusion of pure β thalassemia. However, only the gene of β thalassemia is neglected Alpha thalassemia gene test, resulting in missing such a missing thalassemia.