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地中海贫血与妊娠:一项产前筛查项目的结果

Thalassemia and pregnancy: results of an antenatal screening program.

作者信息

Alger L S, Golbus M S, Laros R K

出版信息

Am J Obstet Gynecol. 1979 Jul 15;134(6):662-73. doi: 10.1016/0002-9378(79)90648-3.

Abstract

A thalassemia screening program was implemented at our institution using the finding of a mean corpuscular volume less than 80 fl as the index of abnormality. Further evaluation using hemoglobin (Hb) electrophoresis and serum iron studies was carried out according to the scheme detailed below. A diagnosis of thalassemia was made in 33 women (42 pregnancies). Eight patients had alpha-thalassemia trait, 23 beta-thalassemia trait, and two Hb H disease. Thalassemia trait did not have any adverse effect on pregnancy outcome. In two couples the fetuses were at risk for homozygous disease and in one couple the fetus was at risk for sickle cell beta-thalassemia. The screening program described is an effective and inexpensive means of detecting thalassemia in an antenatal population and is applicable to most every clinic or office setting.

摘要

我们机构实施了一项地中海贫血筛查计划,以平均红细胞体积小于80飞升作为异常指标。根据以下详细方案,使用血红蛋白(Hb)电泳和血清铁研究进行进一步评估。33名女性(42次妊娠)被诊断为地中海贫血。8例为α地中海贫血特征,23例为β地中海贫血特征,2例为Hb H病。地中海贫血特征对妊娠结局没有任何不良影响。两对夫妇的胎儿有患纯合子疾病的风险,一对夫妇的胎儿有患镰状细胞β地中海贫血的风险。所描述的筛查计划是在产前人群中检测地中海贫血的一种有效且廉价的方法,适用于大多数诊所或办公室环境。

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