Franchini Massimo, Veneri Dino
Servizio di Immunoematologia e Trasfusione, Azienda Ospedaliera, Verona.
Recenti Prog Med. 2004 Oct;95(10):457-62.
Hereditary hemochromatosis is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease. However, transferrin saturation and serum ferritin are still the most reliable tests for the detection of subjects with hereditary hemochromatosis. Therapeutic phlebotomy is the mainstay of the treatment of hereditary hemochromatosis. If phlebotomy is started before the onset of irreversible organ damages, the life expectancy of these patients is similar to that of normal population.
遗传性血色素沉着症是一种铁代谢紊乱疾病,其特征是组织铁逐渐过载,如果不及时治疗,会导致不可逆的器官损伤。分子医学领域的最新进展已从根本上改变了这种疾病的生理病理学和诊断方法。然而,转铁蛋白饱和度和血清铁蛋白仍是检测遗传性血色素沉着症患者最可靠的检测方法。治疗性放血是遗传性血色素沉着症治疗的主要方法。如果在不可逆器官损伤发生之前开始放血治疗,这些患者的预期寿命与正常人群相似。