Tung B Y, Kowdley K V
Division of Gastroenterology, University of Washington School of Medicine, Seattle, USA.
Gastroenterol Clin North Am. 1998 Sep;27(3):637-54. doi: 10.1016/s0889-8553(05)70024-8.
HHC is a common inherited disorder, characterized by iron accumulation in the liver, heart, pancreas, and other organs. The clinical consequences of systemic iron loading are diverse and not always improved with iron reduction therapy. The most important prognostic factor at the time of diagnosis is the presence or absence of hepatic fibrosis or cirrhosis. Those without significant hepatic fibrosis may be expected to have a normal life expectancy with phlebotomy therapy. The availability of genetic testing for HHC has significantly changed the diagnostic approach to this disorder. Although liver biopsy remains vital to determining prognosis, genetic testing is increasingly used in the diagnosis and family screening of patients with HHC.
遗传性血色素沉着症（HHC）是一种常见的遗传性疾病，其特征是铁在肝脏、心脏、胰腺和其他器官中蓄积。全身性铁负荷的临床后果多种多样，且铁减少疗法并不总能改善这些后果。诊断时最重要的预后因素是有无肝纤维化或肝硬化。那些没有明显肝纤维化的患者通过放血疗法有望拥有正常的预期寿命。HHC基因检测的应用显著改变了这种疾病的诊断方法。虽然肝活检对于确定预后仍然至关重要，但基因检测在HHC患者的诊断和家族筛查中越来越常用。
