Simon M, Bourel M
Nouv Presse Med. 1979 Mar 10;8(11):855-9.
Over the last few years the study of idiopathic haemochromatosis has not brought to light any basic change in the overall pattern of organic and metabolic damage produced by the disease and comprising altered skin pigmentation, liver disease, diabete mellitus, heart disease, endocrine dysfunction, bone and joint disease. Nevertheless, certain facets of the clinical picture have been described and progress has been made in understanding the signs of the disease. Although the desferrioxamine test is no without merit, especially if performed after vitamin C administration, for measuring the extent of iron overload, two methods seem better equipped: serum ferritin radioimmunoassay and measurement of iron concentration in a liver biopsy specimen. The HLA antigen A3 and, more especially, haplotype A3, B14, are markers for the genetic basis of the disease. Repeated phlebotomy therapy generally brings about symptomatic improvement and a significant increase in survival.
在过去几年中，对特发性血色素沉着症的研究并未揭示出该疾病所导致的器官和代谢损害的总体模式有任何根本性变化，这些损害包括皮肤色素沉着改变、肝脏疾病、糖尿病、心脏病、内分泌功能障碍、骨骼和关节疾病。然而，已经描述了临床表现的某些方面，并且在理解该疾病的体征方面取得了进展。尽管去铁胺试验并非毫无优点，特别是在给予维生素C后进行时，可用于测量铁过载的程度，但有两种方法似乎更具优势：血清铁蛋白放射免疫测定法和肝活检标本中铁浓度的测量。HLA抗原A3，尤其是单倍型A3、B14，是该疾病遗传基础的标志物。反复放血疗法通常会带来症状改善和生存率的显著提高。
