Napoli V M, Vroon D H, Bryan L, Ross W
South Med J. 1986 Oct;79(10):1289-92. doi: 10.1097/00007611-198610000-00023.
In alpha-thalassemia, deletion or inactivation of one, two, three, or all four alpha-genes causes, respectively, silent carrier state (-alpha/alpha alpha); alpha-thalassemia trait (--/alpha alpha in Orientals, and -alpha/-alpha in blacks); Hb H disease (--/-alpha); and Hb Bart's hydrops fetalis (--/--). We have described a case of Hb H disease with Hb Constant Spring (--/alpha alpha cs) in a Laotian child whose father had alpha-thalassemia trait and whose mother was a carrier of Hb CS, a mutant hemoglobin produced in minimal amounts. Since alpha-thalassemia is highly prevalent in Southeast Asia, physicians should become alert to the potential occurrence of Hb H disease and Hb Bart's hydrops fetalis in the new Oriental immigrants and their progeny.
在α地中海贫血中，一个、两个、三个或全部四个α基因的缺失或失活分别导致静止型携带者状态（-α/αα）；α地中海贫血特征（在东方人中为--/αα，在黑人中为-α/-α）；血红蛋白H病（--/-α）；以及血红蛋白Bart水肿胎儿综合征（--/--）。我们描述了一例老挝儿童患血红蛋白H病合并血红蛋白Constant Spring（--/ααcs）的病例，其父亲有α地中海贫血特征，母亲是血红蛋白CS的携带者，血红蛋白CS是一种产生量极少的突变血红蛋白。由于α地中海贫血在东南亚高度流行，医生应警惕新的东方移民及其后代中可能出现的血红蛋白H病和血红蛋白Bart水肿胎儿综合征。
