Piperno A
Istituto di Scienze Biomediche, Azienda Ospedaliera S. Gerardo, Monza, Italy.
Haematologica. 1998 May;83(5):447-55.
Iron overload is the result of many disorders and could lead to the development of organ damage and increased mortality. The recent description of new conditions associated with iron overload and the identification of the genetic defect of hereditary hemochromatosis prompted us to review this subject and to redefine the diagnostic criteria of iron overload disorders.
The material examined in the present review includes articles published in the Journals covered by the Science Citation Index and Medline. The author has been working in the field of iron overload diseases for several years and has contributed ten of the papers cited in the references.
Iron overload can be classified on the basis of different criteria: route of access of iron within the organism, predominant tissue site of iron accumulation and cause of the overload. Excess iron can gain access by the enteral route, the parenteral route, and placental route during fetal life. The different distribution of iron within parenchymal or reticuloendothelial storage areas indicates different pathogenetic mechanisms of iron accumulation and has relevant implications in terms of organ damage and prognosis of the patients. Iron overload may be either primary, resulting from a deregulation of intestinal iron absorption as in hemochromatosis or secondary to other congenital or acquired conditions. Diagnosis of iron overload can be suspected on the basis of clinical data, high transferrin saturation and/or serum ferritin values. However, several hyperferritinemic conditions are not related to iron overload, but may imply severe disorders (inflammations, neoplasia) or a deregulation of ferritin synthesis (hereditary hyperferritinemia-cataract syndrome), and iron overload secondary to aceruloplasminemia, and the recently described dysmetabolic-associated liver iron overload syndrome, are characterized by low or normal transferrin saturation levels. Liver biopsy is still very useful in the diagnostic approach to iron overload disorders, by defining the amount and the distribution of iron within the liver. The analysis of HFE gene mutations (C282Y and H63D) is a simple and strong tool in the diagnostic work out of iron overload conditions.
铁过载是多种疾病的结果，可导致器官损害及死亡率增加。近期对与铁过载相关的新病症的描述以及遗传性血色素沉着症基因缺陷的鉴定促使我们重新审视这一主题，并重新界定铁过载疾病的诊断标准。
本综述所研究的资料包括发表在《科学引文索引》和《医学索引》收录期刊上的文章。作者在铁过载疾病领域工作多年，参考文献中引用的十篇论文中有其贡献。
铁过载可根据不同标准进行分类：铁在机体内的进入途径、铁蓄积的主要组织部位以及过载的原因。过量的铁可通过肠道途径、肠外途径以及胎儿期的胎盘途径进入体内。铁在实质或网状内皮储存区域的不同分布表明铁蓄积的致病机制不同，对患者的器官损害和预后具有重要意义。铁过载可能是原发性的，如血色素沉着症那样由肠道铁吸收失调引起，也可能是继发于其他先天性或后天性疾病。根据临床数据、高转铁蛋白饱和度和/或血清铁蛋白值可怀疑铁过载的诊断。然而，几种高铁蛋白血症情况与铁过载无关，可能意味着严重疾病（炎症、肿瘤）或铁蛋白合成失调（遗传性高铁蛋白血症 - 白内障综合征），而继发于血浆铜蓝蛋白缺乏症的铁过载以及最近描述的代谢异常相关的肝铁过载综合征，其特征是转铁蛋白饱和度水平低或正常。肝活检在铁过载疾病的诊断方法中仍然非常有用，可确定肝脏中铁的含量和分布。HFE基因突变（C282Y和H63D）分析是铁过载疾病诊断工作中的一种简单而有力的工具。
