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红系细胞及先天性铁粒幼细胞贫血患者的铁代谢

Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

作者信息

Furuyama Kazumichi, Kaneko Kiriko

机构信息

Department of Molecular Biochemistry, Iwate Medical University, Nishitokuta 2-1-1, Yahaba, Iwate, 028-3694, Japan.

出版信息

Int J Hematol. 2018 Jan;107(1):44-54. doi: 10.1007/s12185-017-2368-0. Epub 2017 Nov 14.

DOI:10.1007/s12185-017-2368-0
PMID:29139060
Abstract

Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene products and ring sideroblasts is largely unclear. In this review article, we will focus on the iron metabolism in erythroid cells as well as in patients with congenital sideroblastic anemia.

摘要

铁粒幼细胞性贫血是一类贫血性疾病,其特征是患者骨髓中出现环形铁粒幼细胞。这些疾病通常分为两种类型,即先天性或后天性铁粒幼细胞性贫血。最近,有几种基因被报道与先天性铁粒幼细胞性贫血有关;然而,基因产物的功能与环形铁粒幼细胞之间的关系在很大程度上尚不清楚。在这篇综述文章中,我们将重点关注红系细胞以及先天性铁粒幼细胞性贫血患者的铁代谢。

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Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.非综合征性儿童期先天性铁粒幼细胞贫血:13例经鉴定存在ALAS2或SLC25A38突变患者的报告。
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