Pietrangelo Antonello
Center for Hemochromatosis, Department of Internal Medicine, University of Modena and Reggio Emilia, Modena 41100, Italy.
Blood Cells Mol Dis. 2004 Jan-Feb;32(1):131-8. doi: 10.1016/j.bcmd.2003.08.003.
A new inherited disorder of iron metabolism, hereafter called "the ferroportin disease," is increasingly recognized worldwide. The disorder is due to pathogenic mutations in the SLC40A1 gene encoding for a main iron export protein in mammals, ferroportin1/IREG1/MTP1, and it was originally identified as an autosomal-dominant form of iron overload not linked to the hemochromatosis (HFE) gene. It has distinctive clinical features such as early increase in serum ferritin in spite of low-normal transferrin saturation, progressive iron accumulation in organs, predominantly in reticuloendothelial macrophages, marginal anemia with low tolerance to phlebotomy. Ferroportin mutations have been reported in many countries regardless of ethnicity. They may lead to a loss of protein function responsible for reduced iron export from cells, particularly reticuloendothelial cells. Now, the disorder appears to be the most common cause of hereditary iron overload beyond HFE hemochromatosis.
一种新的铁代谢遗传性疾病,以下简称“铁转运蛋白病”,在全球范围内越来越受到认可。该疾病是由编码哺乳动物主要铁输出蛋白铁转运蛋白1/IREG1/MTP1的SLC40A1基因突变引起的,最初被鉴定为一种与血色素沉着症(HFE)基因无关的常染色体显性形式的铁过载。它具有独特的临床特征,如尽管转铁蛋白饱和度略低于正常水平,但血清铁蛋白仍早期升高、器官中铁逐渐积累,主要是在网状内皮巨噬细胞中、伴有对放血耐受性低的边缘性贫血。无论种族如何,许多国家都报道了铁转运蛋白突变。它们可能导致负责细胞(特别是网状内皮细胞)铁输出减少的蛋白质功能丧失。现在,该疾病似乎是除HFE血色素沉着症之外遗传性铁过载的最常见原因。
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