Department of Pediatrics Hematology-Oncology, Children's Blood Foundation Laboratories, Weill Medical College of Cornell University, New York, NY, USA.
Blood. 2011 Jan 27;117(4):1379-89. doi: 10.1182/blood-2010-09-307462. Epub 2010 Nov 8.
In hereditary hemochromatosis, mutations in HFE lead to iron overload through abnormally low levels of hepcidin. In addition, HFE potentially modulates cellular iron uptake by interacting with transferrin receptor, a crucial protein during erythropoiesis. However, the role of HFE in this process was never explored. We hypothesize that HFE modulates erythropoiesis by affecting dietary iron absorption and erythroid iron intake. To investigate this, we used Hfe-KO mice in conditions of altered dietary iron and erythropoiesis. We show that Hfe-KO mice can overcome phlebotomy-induced anemia more rapidly than wild-type mice (even when iron loaded). Second, we evaluated mice combining the hemochromatosis and β-thalassemia phenotypes. Our results suggest that lack of Hfe is advantageous in conditions of increased erythropoietic activity because of augmented iron mobilization driven by deficient hepcidin response. Lastly, we demonstrate that Hfe is expressed in erythroid cells and impairs iron uptake, whereas its absence exclusively from the hematopoietic compartment is sufficient to accelerate recovery from phlebotomy. In summary, we demonstrate that Hfe influences erythropoiesis by 2 distinct mechanisms: limiting hepcidin expression under conditions of simultaneous iron overload and stress erythropoiesis, and impairing transferrin-bound iron uptake by erythroid cells. Moreover, our results provide novel suggestions to improve the treatment of hemochromatosis.
在遗传性血色素沉着症中,HFE 的突变导致铁过载,原因是铁调素水平异常降低。此外,HFE 可能通过与转铁蛋白受体相互作用来调节细胞铁摄取,转铁蛋白受体是红细胞生成过程中的关键蛋白。然而,HFE 在这个过程中的作用从未被探索过。我们假设 HFE 通过影响膳食铁吸收和红系铁摄入来调节红细胞生成。为了研究这一点,我们在改变膳食铁和红细胞生成的条件下使用 Hfe-KO 小鼠。我们表明,Hfe-KO 小鼠可以比野生型小鼠更快地克服放血引起的贫血(即使铁负荷)。其次,我们评估了结合血色素沉着症和β-地中海贫血表型的小鼠。我们的结果表明,由于缺乏铁调素反应导致铁动员增加,因此在红细胞生成活性增加的情况下缺乏 Hfe 是有利的。最后,我们证明 Hfe 在红细胞中表达并损害铁摄取,而其仅从造血细胞中缺失足以加速从放血中恢复。总之,我们证明 Hfe 通过 2 种不同的机制影响红细胞生成:在同时铁过载和应激性红细胞生成的情况下限制铁调素表达,以及损害红细胞的转铁蛋白结合铁摄取。此外,我们的结果为改善血色素沉着症的治疗提供了新的建议。
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