Haptoglobin polymorphism and body iron stores
Haptoglobin polymorphism and body iron stores
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DOI：
10.1515/cclm.2002.035
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发表时间：
2002-01-01
影响因子：
6.8
通讯作者：
Langlois, MR
中科院分区：
文献类型：
--
作者：
Delanghe, JR;Langlois, MR
在人类中，铁的状态受环境和遗传因素的影响。其中，血红蛋白（Hb）结合血浆蛋白结合珠蛋白（Hp）的遗传多态性已被证明会影响铁周转。Hp最为人所知的生物学功能是捕获血浆中的游离Hb，以允许血红素铁的肝脏再循环并防止溶血期间的肾损伤。在健康男性中，而不是在女性中，Hp 2-2表型与较高的血清铁，较高的转铁蛋白饱和度，较高的铁蛋白比Hp 1-1和2-1。此外，血清铁蛋白与单核细胞L铁蛋白含量相关，其在Hp 2-2受试者中也是最高的，这是由于最近在巨噬细胞中鉴定的Hb清道夫受体CD 163对多聚体HbHp 2-2复合物的内吞作用。这种铁离域途径，选择性地发生在Hp 2-2受试者，具有重要的生物学和临床后果。Hp多态性与铁代谢改变的各种病理状况（例如血色素沉着症、感染和动脉粥样硬化性血管疾病）的患病率和结局相关。
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 Lferritin content, which is also highest in Hp 2-2 subjects due to endocytosis of multimeric HbHp 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.