缺铁螯合酶缺陷小鼠血浆转铁蛋白增加、体内铁分布改变及小细胞低色素性贫血。

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.

作者信息

Lyoumi Saïd, Abitbol Marie, Andrieu Valérie, Henin Dominique, Robert Elodie, Schmitt Caroline, Gouya Laurent, de Verneuil Hubert, Deybach Jean-Charles, Montagutelli Xavier, Beaumont Carole, Puy Hervé

机构信息

INSERM U773, Paris, France.

出版信息

Blood. 2007 Jan 15;109(2):811-8. doi: 10.1182/blood-2006-04-014142. Epub 2006 Sep 26.

Abstract

Patients with deficiency in ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway, experience a painful type of skin photosensitivity called erythropoietic protoporphyria (EPP), which is caused by the excessive production of protoporphyrin IX (PPIX) by erythrocytes. Controversial results have been reported regarding hematologic status and iron status of patients with EPP. We thoroughly explored these parameters in Fechm1Pas mutant mice of 3 different genetic backgrounds. FECH deficiency induced microcytic hypochromic anemia without ringed sideroblasts, little or no hemolysis, and no erythroid hyperplasia. Serum iron, ferritin, hepcidin mRNA, and Dcytb levels were normal. The homozygous Fechm1Pas mutant involved no tissue iron deficiency but showed a clear-cut redistribution of iron stores from peripheral tissues to the spleen, with a concomitant 2- to 3-fold increase in transferrin expression at the mRNA and the protein levels. Erythrocyte PPIX levels strongly correlated with serum transferrin levels. At all stages of differentiation in our study, transferrin receptor expression in bone marrow erythroid cells in Fech(m1Pas) was normal in mutant mice but not in patients with iron-deficiency anemia. Based on these observations, we suggest that oral iron therapy is not the therapy of choice for patients with EPP and that the PPIX-liver transferrin pathway plays a role in the orchestration of iron distribution between peripheral iron stores, the spleen, and the bone marrow.

摘要

患有亚铁螯合酶(FECH)缺乏症的患者会经历一种名为红细胞生成性原卟啉病(EPP)的疼痛性皮肤光过敏,该病是由红细胞过度产生原卟啉IX(PPIX)引起的。关于EPP患者的血液学状态和铁状态,已有相互矛盾的报道。我们在3种不同遗传背景的Fechm1Pas突变小鼠中深入探究了这些参数。FECH缺乏导致了小细胞低色素性贫血,无环形铁粒幼细胞,几乎没有溶血,也没有红系增生。血清铁、铁蛋白、铁调素mRNA和二价金属离子转运蛋白(Dcytb)水平均正常。纯合Fechm1Pas突变体不存在组织缺铁,但显示铁储存从外周组织明显重新分布到脾脏,同时转铁蛋白在mRNA和蛋白质水平的表达增加2至3倍。红细胞PPIX水平与血清转铁蛋白水平密切相关。在我们研究的所有分化阶段,Fech(m1Pas)突变小鼠骨髓红系细胞中的转铁蛋白受体表达正常,但缺铁性贫血患者则不然。基于这些观察结果,我们认为口服铁剂疗法并非EPP患者的首选治疗方法,并且PPIX-肝脏转铁蛋白途径在协调外周铁储存、脾脏和骨髓之间的铁分布中发挥作用。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索