CAJ | 학술논문

目的：了解血液学初筛表型阴性的孕妇地中海贫血基因类型及分布，为优生优育提供参考和指导。方法用全自动血液分析仪测定病人平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)，应用gap-PCR法检测3种缺失型α-地贫基因和膜反向杂交法检测17种β-地贫基因突变，对实验数据进行统计分析。结果在1787例地贫初筛表型阴性的孕妇中，检出地贫基因携带者52例，占总检出地贫的14.21%(52/366)，其中αα/-α3.746例、-α4.2/αα3例、β地贫(均为CAP杂合子)2例、α复合β地贫(基因型-α3.7/βEM)1例，分别占检出的88.46%、5.77%、3.85%、1.92%。结论在地贫高发地区， MCV≥82fl、MCH≥27pg不能完全排除携带地贫基因的风险，基因型以αα/-α3.7为主。
목적：료해혈액학초사표형음성적잉부지중해빈혈기인류형급분포，위우생우육제공삼고화지도。방법용전자동혈액분석의측정병인평균홍세포체적(MCV)、평균홍세포혈홍단백함량(MCH)，응용gap-PCR법검측3충결실형α-지빈기인화막반향잡교법검측17충β-지빈기인돌변，대실험수거진행통계분석。결과재1787례지빈초사표형음성적잉부중，검출지빈기인휴대자52례，점총검출지빈적14.21%(52/366)，기중αα/-α3.746례、-α4.2/αα3례、β지빈(균위CAP잡합자)2례、α복합β지빈(기인형-α3.7/βEM)1례，분별점검출적88.46%、5.77%、3.85%、1.92%。결론재지빈고발지구， MCV≥82fl、MCH≥27pg불능완전배제휴대지빈기인적풍험，기인형이αα/-α3.7위주。
Objective To investigate the genotypes and distribution of thalassemia in pregnant women with negative hemato-logical phenotype, providing reference and guidance for good prenatal and postnatal care. Methods MCV and MCH were detect-ed by hematology system. Gap-PCR was used to detect the three kinds of gene deletion of α-thalassemia and reverse dot blot ( RDB) was used to detect the17 kinds of gene mutation ofβ-thalassemia, All data from the detection was analyzed statistically. Re-sults Among 1787 pregnants with negative hematological phenotype, 52 cases of thalassemia gene carriers were detected, accouting for 14.21%(52/366) in all thalassemia gene carriers. 46 cases ofαα/-α3.7,3 cases of-α4.2/αα, 2 cases of CAP heterozygosis ofβ-thalassemia and a case ofα3.7/βEM ofα-andβ-compound thalassemia were detected, occupied 88.46%, 5.77%, 3.85%and 1.92%respectively. Conclusions In high incidence areas of thalassemia, the thalassemia gene carries couldn't be completely ruled out with MCV≥82fl、MCH≥27pg, among whom the main genotype of thalassemia detected isαα/-α3.7.