Nichols G M, Bacon B R
Department of Medicine, Louisiana State University, School of Medicine, Shreveport.
Am J Gastroenterol. 1989 Aug;84(8):851-62.
Hereditary hemochromatosis (HHC) is a common inherited disorder of iron metabolism characterized by excessive iron absorption and the toxic accumulation of iron in parenchymal cells. Homozygous inheritance of an abnormality on chromosome 6 causes this disorder by increasing the intestinal absorption of iron, which is slowly deposited in parenchymal cells of the liver, heart, pancreas, and other endocrine organs. Symptoms develop only after the marked accumulation of iron stores develop, which causes functional insufficiency of these organs. The symptoms are often variable, nonspecific, and attributed to other diseases. Early diagnosis requires a high index of suspicion and an awareness of the clinical features of HHC. Serum iron, total iron-binding capacity (TIBC), and ferritin levels are useful screening studies, but liver biopsy with quantitative chemical determination of iron concentration is essential to evaluate histopathological changes and to help distinguish hereditary hemochromatosis from secondary iron overload. Treatment with weekly phlebotomy frequently results in some clinical improvement in patients with established disease, and if initiated early, organ damage can be prevented and a normal life-span can be expected. The hereditary nature of the disease mandates familial screening of index cases.
遗传性血色素沉着症（HHC）是一种常见的遗传性铁代谢紊乱疾病，其特征是铁吸收过多以及铁在实质细胞中有毒性蓄积。6号染色体上异常的纯合子遗传通过增加肠道对铁的吸收导致这种疾病，铁会缓慢沉积在肝脏、心脏、胰腺和其他内分泌器官的实质细胞中。只有在铁储存显著积累导致这些器官功能不全之后才会出现症状。症状通常多变、不具特异性，且常被归因于其他疾病。早期诊断需要高度的怀疑指数以及对HHC临床特征的认识。血清铁、总铁结合力（TIBC）和铁蛋白水平是有用的筛查指标，但通过肝脏活检进行铁浓度的定量化学测定对于评估组织病理学变化以及帮助区分遗传性血色素沉着症与继发性铁过载至关重要。对于已确诊疾病的患者，每周进行静脉放血治疗通常会带来一定的临床改善，如果早期开始治疗，可以预防器官损伤并预期正常寿命。该疾病的遗传性要求对索引病例进行家族筛查。
