Legras B, Lucas-Clerc C, Doualin G, Audiau C, Ruelland A, Vialard J, Cloarec L
Laboratoire de Biochimie, Hôtel Dieu, CHRU de Rennes, France.
Pathol Biol (Paris). 1991 Jan;39(1):50-3.
A fetus with signs of hydrops fetalis syndrome of unknown etiology, has been studied at 21 weeks. In fetal blood, total absence of HbA and HbF, presence of Hb Bart's, Hb Portland and HbH argued in favor of alpha zero-thalassemia syndrome. Because thalassemia syndromes were transmitted in a mendelian autosomal fashion, we studied the parents. Results suggest that the father was carrier of heterozygous alpha zero-thalassemia syndrome and the mother of hemoglobin H disease (and also heterozygous HbE). Neither of them was aware of being carrier of the disease but this results explain the fetal homozygous alpha zero-thalassemia.
一名患有病因不明的胎儿水肿综合征迹象的胎儿，在孕21周时接受了研究。胎儿血液中完全缺乏HbA和HbF，存在Hb Bart's、Hb Portland和HbH，提示为α0地中海贫血综合征。由于地中海贫血综合征是以孟德尔常染色体方式遗传的，我们对其父母进行了研究。结果表明，父亲是杂合子α0地中海贫血综合征携带者，母亲是血红蛋白H病（也是杂合子HbE）携带者。他们两人都不知道自己是该病的携带者，但这些结果解释了胎儿的纯合子α0地中海贫血。
