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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.

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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1
Congenital diserythropoietic anemia type I. Report on monozygotic twins with associated hemochromatosis and short stature.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。
Blut. 1990 Oct;61(4):248-50. doi: 10.1007/BF01744140.
2
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引用本文的文献

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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.先天性红细胞生成异常性贫血 I 型的发病机制、诊断与治疗。
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本文引用的文献

1
Congenital dyserythropoietic anemia type I. Report of a case.
Blut. 1981 Jan;42(1):47-52. doi: 10.1007/BF01080264.
2
Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I.皮下注射去铁胺在一名患有I型先天性红细胞生成异常性贫血相关血色素沉着症儿童中的应用。
Mayo Clin Proc. 1982 May;57(5):322-5.
3
Congenital dyserythropoietic anaemias: splenectomy as a mode of therapy.先天性红细胞生成异常性贫血:脾切除术作为一种治疗方式
Acta Haematol. 1981;66(3):195-201. doi: 10.1159/000207119.
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Congenital dyserythropoietic anemia type I. Report of a case with increased erythrocyte agglutinability by anti-i serum.I型先天性红细胞生成异常性贫血。1例抗-i血清所致红细胞凝集性增加的病例报告。
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Dyserythropoiesis, refractory anemia, and "preleukemia:" metabolic features of the erythrocytes.
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[Congenital dyserythropoiesis (study of 6 cases)].
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Congenital dyserythropoietic anemia type I: report of a pair of siblings.I型先天性红细胞生成异常性贫血:一对同胞兄妹的病例报告。
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