I型先天性红细胞生成异常性贫血。关于一对患有相关血色素沉着症和身材矮小的单卵双胞胎的报告。
Congenital diserythropoietic anemia type I. Report on monozygotic twins with associated hemochromatosis and short stature.
作者信息
Facon T, Mannessier L, Lepelley P, Weill J, Fenaux P, Dupriez B, Morel P, Jouet J P
机构信息
Service des Maladies du Sang, Hôpital Claude Huriez, Lille, France.
出版信息
Blut. 1990 Oct;61(4):248-50. doi: 10.1007/BF01744140.
PMID:2224147
Abstract
We report the first occurrence of congenital dyserythropoietic anemia type I in monozygotic twins and the seventh familial occurrence to our knowledge. Mild hemochromatosis is present in the two children but has not yet required iron chelation. Moderate growth retardation, which seems to be related to pituitary failure, is also present.
摘要
我们报告了单卵双胞胎中首次出现的I型先天性红细胞生成异常性贫血，据我们所知这是第七例家族性病例。两个孩子均存在轻度血色素沉着症，但尚未需要进行铁螯合治疗。还存在中度生长发育迟缓，这似乎与垂体功能衰竭有关。
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