Delanghe Joris R, Langlois Michel R
Department of Clinical Chemistry, Ghent University Hospital, Belgium.
Clin Chem Lab Med. 2002 Mar;40(3):212-6. doi: 10.1515/CCLM.2002.035.
In humans the iron status is influenced by environmental and genetic factors. Among them, the genetic polymorphism of the hemoglobin (Hb)-binding plasma protein haptoglobin (Hp) has been shown to affect iron turnover. The best known biological function of Hp is capture of free Hb in plasma to allow hepatic recycling of heme iron and to prevent kidney damage during hemolysis. In healthy males, but not in females, the Hp 2-2 phenotype is associated with higher serum iron, higher transferrin saturation, and higher ferritin than Hp 1-1 and 2-1. Moreover, serum ferritin correlates with monocyte L-ferritin content, which is also highest in Hp 2-2 subjects due to endocytosis of multimeric Hb-Hp 2-2 complexes by the recently identified Hb scavenger receptor CD163 in macrophages. This iron delocalization pathway, occurring selectively in Hp 2-2 subjects, has important biological and clinical consequences. The Hp polymorphism is related to the prevalence and the outcome of various pathological conditions with altered iron metabolism such as hemochromatosis, infections, and atherosclerotic vascular disease.
在人类中，铁状态受环境和遗传因素影响。其中，血红蛋白（Hb）结合血浆蛋白触珠蛋白（Hp）的基因多态性已被证明会影响铁代谢。Hp最广为人知的生物学功能是捕获血浆中的游离Hb，以便肝脏对血红素铁进行再循环，并防止溶血过程中对肾脏的损害。在健康男性而非女性中，与Hp 1-1和2-1相比，Hp 2-2表型与更高的血清铁、更高的转铁蛋白饱和度和更高的铁蛋白相关。此外，血清铁蛋白与单核细胞L-铁蛋白含量相关，由于巨噬细胞中最近鉴定出的Hb清除受体CD163对多聚体Hb-Hp 2-2复合物的内吞作用，Hp 2-2受试者的单核细胞L-铁蛋白含量也最高。这种铁的重新分布途径仅在Hp 2-2受试者中选择性发生，具有重要的生物学和临床意义。Hp多态性与多种铁代谢改变的病理状况（如血色素沉着症、感染和动脉粥样硬化性血管疾病）的患病率和转归相关。
