Bannerman R M
Fed Proc. 1976 Sep;35(11):2281-5.
Five genetic traits in man and laboratory animals have major effects on iron transport. The heterogeneous condition, hemochromatosis, in some families appears to segregate as a Mendelian trait, and is associated with defective control of intestinal iron absorption. In the very rare human autosomal recessive trait, atransferrinemia, there is an almost total lack of transferrin and gross maldistribution of iron through the body. In mice, sex-linked anemia (an X-linked recessive trait) causes iron deficiency through defective iron absorption, at the "exit" step; a similar defect probably exists in placental iron transfer. In microcytic anemia of mice, an autosomal recessive trait, iron absorption is also impaired because of a defect of iron entry into cells, which is probably generalized. Belgrade rat anemia, less understood at present, also may involve a major disorder of iron metabolism. Study of these mutations has provided new knowledge of iron metabolism and its genetic control Their phenotypic interaction with nutritional factors, especially the form and quantity of iron in the diet, may provide new insights for the study of nutrition.
人类和实验动物的五种遗传特性对铁的转运有重大影响。在一些家族中，遗传性疾病血色素沉着症似乎作为一种孟德尔性状进行分离，并且与肠道铁吸收的控制缺陷有关。在极为罕见的人类常染色体隐性性状——无转铁蛋白血症中，几乎完全缺乏转铁蛋白，铁在体内分布严重不均。在小鼠中，性连锁贫血（一种X连锁隐性性状）在“出口”步骤通过铁吸收缺陷导致缺铁；胎盘铁转运可能也存在类似缺陷。在小鼠的小细胞性贫血（一种常染色体隐性性状）中，由于铁进入细胞存在缺陷（可能是全身性的），铁吸收也受到损害。目前对贝尔格莱德大鼠贫血了解较少，它可能也涉及铁代谢的一种主要紊乱。对这些突变的研究为铁代谢及其遗传控制提供了新知识。它们与营养因素的表型相互作用，尤其是饮食中铁的形式和数量，可能为营养研究提供新的见解。
