McCormack M K, Geller G R, Zak S, Tukey D P, Krivit W
J Pediatr. 1976 Sep;89(3):446-51. doi: 10.1016/s0022-3476(76)80548-3.
A previously unrecognized hypochromic anemia associated with marked normoblastemia during the newborn period is reported. One male and two female siblings and a first cousin had a hypochromic anemia and marked normoblastemia (300 to 900 normoblast index per 100 white blood cells) at birth. Globin chain synthesis studies on peripheral blood of the proband at birth indicated the presence of alpha-thalassemia trait with possible reduced gamma chain synthesis. Studies of globin chain synthesis on the father, two older affected siblings of the proband, and the proband at 1.5 years of age revealed alpha-thalassemia trait. The data suggest this complex alpha-thalassemia-like condition as a new syndrome associated with marked neonatal normoblastemia.
本文报告了一种此前未被认识的新生儿期低色素性贫血，伴有显著的幼红细胞血症。一名男性和两名女性同胞以及一名堂兄在出生时患有低色素性贫血和显著的幼红细胞血症（每100个白细胞中幼红细胞指数为300至900）。对先证者出生时外周血进行的珠蛋白链合成研究表明存在α地中海贫血特征，可能伴有γ链合成减少。对父亲、先证者的两名年长患病同胞以及1.5岁时的先证者进行的珠蛋白链合成研究显示存在α地中海贫血特征。数据表明这种复杂的α地中海贫血样病症是一种与显著的新生儿幼红细胞血症相关的新综合征。
