CAJ | 학술논문

目的：研究四川省绵阳城区孕妇α-地中海贫血(简称α-地贫)缺失型基因的构成情况、临床表现及相关实验室检查,探讨产前实验室筛查及基因诊断在α-地贫中的应用价值,为降低该地区α-地贫发病率,防止重型地贫患儿出生提供参考。方法对基因确诊的137例α-地贫孕妇的缺失型基因类型结合临床表现进行分类,并收集同期经基因诊断为非地贫的30例缺铁性贫血(IDA)孕妇及30例正常孕妇血样,比较三组的血常规参数、血红蛋白电泳(HbA2)及红细胞孵育渗透脆性试验( MDST)结果,并进行统计学分析。结果137例缺失型α-地贫孕妇中,共发现5种基因型：--SEA/αα110例,-α3．7/αα20例,-α4．2/αα2例,-α3．7/--SEA 4例,-α4．2/--SEA 1例；地贫组的血常规参数出现 RBC增高而 MCV 和MCH降低的特征性改变,各参数在地贫组与正常对照组除RDW外差异均有统计学意义( P<0．01)；地贫组与IDA组除RDW、MCHC外差异均有统计学意义(P<0．01)；地贫组和IDA组的Hb、MCV、MCH及HbA2等参数的鉴别诊断性能结果比较,除HbA2差异均无统计学意义(P>0．05)。结论绵阳城区孕妇α-地贫以--SEA/αα最常见,MCV、MCH及Hb电泳作为地贫筛查指标,联合应用,可提高地贫产前筛查阳性率,但必须结合基因诊断的方法,才能实现广泛的地贫筛查和诊断。
목적：연구사천성면양성구잉부α-지중해빈혈(간칭α-지빈)결실형기인적구성정황、림상표현급상관실험실검사,탐토산전실험실사사급기인진단재α-지빈중적응용개치,위강저해지구α-지빈발병솔,방지중형지빈환인출생제공삼고。방법대기인학진적137례α-지빈잉부적결실형기인류형결합림상표현진행분류,병수집동기경기인진단위비지빈적30례결철성빈혈(IDA)잉부급30례정상잉부혈양,비교삼조적혈상규삼수、혈홍단백전영(HbA2)급홍세포부육삼투취성시험( MDST)결과,병진행통계학분석。결과137례결실형α-지빈잉부중,공발현5충기인형：--SEA/αα110례,-α3．7/αα20례,-α4．2/αα2례,-α3．7/--SEA 4례,-α4．2/--SEA 1례；지빈조적혈상규삼수출현 RBC증고이 MCV 화MCH강저적특정성개변,각삼수재지빈조여정상대조조제RDW외차이균유통계학의의( P<0．01)；지빈조여IDA조제RDW、MCHC외차이균유통계학의의(P<0．01)；지빈조화IDA조적Hb、MCV、MCH급HbA2등삼수적감별진단성능결과비교,제HbA2차이균무통계학의의(P>0．05)。결론면양성구잉부α-지빈이--SEA/αα최상견,MCV、MCH급Hb전영작위지빈사사지표,연합응용,가제고지빈산전사사양성솔,단필수결합기인진단적방법,재능실현엄범적지빈사사화진단。
Objective To study the clinical application value of laboratory examination and genetic diagnosis about alpha thalassaemia,by ana-lyzing the genotype absence of pregent women with alpha thalassaemia in Mianyang city,so as to reduce the incidence of severe a-thalassaemia fetus. Methods Etythrocyte parameters hemoglobin electrophoresis ( HbA2 ) and erythrocyte osmotic fragility test ( MDST ) were performed in 137 pregnant women with alpha thalassaemia,30 pregnant women with iron deficiency anemia and 30 norml pregnant women to compare the difference. Results There were 5 genotypes in 137 pregnant women with a-thalassaemia :--SEA/aa ( South-East Asia ) 110 cases,-a 3. 7/aa 20 cases,-a 4. 2/aa 2 cases,-a 3. 7/--SEA4 cases,-a 4. 2/--SEA1 case. There were characteristic changes:high RDW,low MCV and low MCH in alpha thalassaemia group. There were significant differences in the erythrocyte paraments between a-thalassaemia group and normol group except RDW(P<0. 01);between a-thalassaemia and IDA group except RDW and MCHC(P<0. 01). The results of the parameters such as Hb、MCH、MCHC、HbA2,showed that there was no significant difference except HbA2 bettween the a-thalassaemia group and the IDA group(P<0. 05). Conclusion The South-East Asia deletion genotype was the predominant genotype of a-thalassaemia in Mianyang city. MCV,MCH and HbA2 electrophoresis as poor screening index,joint application,can improve the poor prenatal screening positive rate,but it must be combined with genetic diagnosis method,to achieve a wide range of poor screening and diagnosis.