Krishnamurti L, Chui D H, Dallaire M, LeRoy B, Waye J S, Perentesis J P
Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455, USA.
J Pediatr. 1998 May;132(5):863-5. doi: 10.1016/s0022-3476(98)70319-1.
Hemoglobin E (HbE), alpha-thalassemia, and beta-thalassemia are common among Southeast Asians and often occur in compound heterozygous states that complicate neonatal screening. We describe a kindred with alpha-thalassemia-1, HbE, and beta zero-thalassemia. The proband had HbE/beta zero-thalassemia, with severe anemia and failure to thrive. His father also had HbE/beta zero-thalassemia but had coinherited alpha-thalassemia-1 and was free of symptoms.
血红蛋白E（HbE）、α地中海贫血和β地中海贫血在东南亚人群中很常见，且常以复合杂合状态出现，这使得新生儿筛查变得复杂。我们描述了一个患有α地中海贫血-1、HbE和β0地中海贫血的家族。先证者患有HbE/β0地中海贫血，伴有严重贫血和发育不良。他的父亲也患有HbE/β0地中海贫血，但同时遗传了α地中海贫血-1且没有症状。
