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[成人先天性红细胞生成异常性贫血II相关的髓外造血]

[Extra medullary hematopoiesis associated to congenital dyserythropoietic anemia II in adult].

作者信息

Jedidi Inès, Medhaffar Moez, Ghorbel Manel, Hdiji Sondes, Makni Faiza, Elloumi Moez, Kallel Choumous

机构信息

Laboratoire d'hématologie, CHU Habib Bourguiba, Sfax, Tunisie.

出版信息

Ann Biol Clin (Paris). 2012 Mar-Apr;70(2):217-20. doi: 10.1684/abc.2012.0694.

Abstract

The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis characterized by anemia with ineffective erythropoiesis and morphological abnormalities of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II or HEMPAS is the more frequent type. It is rare in adults. Extra medullary hematopoiesis is also a rare entity; it is a physiological response to chronic anemia observed in certain hemopathies like congenital dyserythropoietic anemia type II. We report the observation of a patient for who diagnosis of extra medullary hematopoiesis associated to congenital dyserythropoietic type II was made in adulthood.

摘要

先天性红细胞生成异常性贫血是一组罕见的遗传性红细胞生成障碍性疾病,其特征为贫血伴无效红细胞生成以及骨髓中幼红细胞的形态异常。II型先天性红细胞生成异常性贫血或遗传性多核细胞性巨幼红细胞贫血(HEMPAS)是较为常见的类型。在成年人中较为罕见。髓外造血也是一种罕见情况;它是在某些血液病(如II型先天性红细胞生成异常性贫血)中观察到的对慢性贫血的一种生理反应。我们报告了一例成年患者,其被诊断为与II型先天性红细胞生成异常性贫血相关的髓外造血。

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