CAJ | 학술논문

　　目的探讨α-珠蛋白生成障碍性贫血产前诊断在降低出生缺陷中的效果。方法选择2003年1月至2012年7月进行α-珠蛋白生成障碍性贫血产前诊断的妊娠1037例，采用聚合酶链反应结合琼脂糖凝胶电泳和反向点杂交技术对脐带血和原位培养后的羊水或绒毛组织检测α珠蛋白基因，同时对合并β-珠蛋白生成障碍贫血者进行β-珠蛋白基因检测。结果1037例妊娠中α-珠蛋白生成障碍性贫血检出率为79．27％，其中血红蛋白 H （Hb Bart′s）胎儿水肿综合征292例，HbH病45例；同时检出中间型、重型β-珠蛋白生成障碍贫血5例，β-珠蛋白生成障碍贫血杂合子28例，包括α复合β-珠蛋白生成障碍贫血26例，终止妊娠339例。结论α-珠蛋白生成障碍性贫血产前干预是防止该类患儿出生的有效措施，同时应加强复合型珠蛋白生成障碍贫血的干预。
　　목적탐토α-주단백생성장애성빈혈산전진단재강저출생결함중적효과。방법선택2003년1월지2012년7월진행α-주단백생성장애성빈혈산전진단적임신1037례，채용취합매련반응결합경지당응효전영화반향점잡교기술대제대혈화원위배양후적양수혹융모조직검측α주단백기인，동시대합병β-주단백생성장애빈혈자진행β-주단백기인검측。결과1037례임신중α-주단백생성장애성빈혈검출솔위79．27％，기중혈홍단백 H （Hb Bart′s）태인수종종합정292례，HbH병45례；동시검출중간형、중형β-주단백생성장애빈혈5례，β-주단백생성장애빈혈잡합자28례，포괄α복합β-주단백생성장애빈혈26례，종지임신339례。결론α-주단백생성장애성빈혈산전간예시방지해류환인출생적유효조시，동시응가강복합형주단백생성장애빈혈적간예。
Objective To investigste the value of reducing birth defects by using prenatal diagnosis of α-thalas-semia(thal) .Methods From 2003 January to 2012 July ,1 037 cases of pregnancy prenatal diagnosis of α-thalwere collected .Cord blood ,amniotic fluid cells and villusin in situ cultivation were used to detect the αglobin genotypes , polymerase chain reaction followed by restriction enzyme analysis or by reverse dot blot hybridization .Results Hb Bart's hydrops fetalis syndrome 292 ,Hb H diseasd 45 ,severe orβ-thal 5 and heterozygousβ-thal 28 were detected a-mong 1 037 specimens ,and there were 26 fetuses compounded with heterozygous β-thal .Conclusion To reduce the persons born ,α-thal need to be controlled ,especially prenatally .Meanwhile ,Should strengthen the anemia composite globin dyspoiesis .