分期 来自妙佑医疗国际员工 遗传性血色素沉着症有三个分期。 1 期。 在这一最早分期,您携带两个可导致血色素沉着症的遗传基因拷贝。但实验室检测显示体内铁水平处于健康范围内。许多人停留在这一分期,不会继续发展。 2 期。 在这个中间阶段,实验室检测显示您体内有铁过量的体征。但没有迹象表明铁过载水平已导致组织或器官损伤。 3 期。 在这一最晚分期,您会出现与铁过载相关的组织损伤或器官损伤迹象。 器官损伤血色病常常根据血液检测结果做出诊断,血检可能显示高铁蛋白水平或是基因突变。因此可以尽早开始治疗,从而预防器官损伤。 如果诊断较晚或未接受治疗,则可能造成器官损伤。肝脏通常是首个受损的器官。铁过多可能会导致严重的肝脏瘢痕形成,这种状况被称为肝硬化。铁蛋白高于 1,000 微克/升,会增加患肝硬化的风险。肝硬化也会增加患肝癌的风险。 发生肝损伤后,其他器官也可能受损。胰腺受损会导致肤色变化,这种情况有时被称为青铜色糖尿病。稍后时期,血色病可能导致心脏损伤。但是,心脏损伤可能是青少年型血色病的首发体征之一。 在器官损伤发生前启动治疗,效果最为理想。如果已经发生了器官损伤,治疗仍有助于防止损伤进一步加重。有时,治疗还有助于逆转部分损伤。例如,糖尿病可能得到改善或被逆转。部分肝脏瘢痕形成也可能得到改善。然而,一旦出现肝硬化,通常便无法逆转。 申请预约 诊断与治疗生存率 May 14, 2026 Share on: FacebookTwitterWeChatWeChatCloseWeibo 显示参考文献 Feldman M, et al., eds. Hemochromatosis. In: Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management. 11th ed. Elsevier; 2021. https://www.clinicalkey.com. Accessed Sept. 23, 2024. Ferri FF. Hemochromatosis. In: Ferri's Clinical Advisor 2026. Elsevier; 2026. https://www.clinicalkey.com. Accessed Oct. 9, 2025. Hereditary hemochromatosis. American College of Gastroenterology. https://gi.org/topics/hereditary-hemochromatosis-hh/. Accessed Oct. 9, 2025. Hemochromatosis. American Liver Foundation. https://liverfoundation.org/liver-diseases/rare-disease/hemochromatosis/. Accessed Oct. 9, 2025. Kellerman RD, et al. Hemochromatosis. In: Conn's Current Therapy 2024. Elsevier; 2024. https://www.clinicalkey.com. Accessed Sept. 23, 2024. Romon I, et al. Adverse effects of therapeutic phlebotomies: Prospective study of 587 procedures. Transfusion. 2024; doi:10.1111/trf.17862. Palmer WC, et al. In the clinic: Hemochromatosis. Annals of Internal Medicine. 2025; doi:10.7326/ANNALS-24-03710. Girelli D, et al. Diagnosis and management of hereditary hemochromatosis: Lifestyle modification, phlebotomy, and blood donation. Hematology, the ASH Education Program. 2024; doi:10.1182/hematology.2024000568. Phatak P, et al. Clinical manifestations and diagnosis of hereditary hemochromatosis. https://www.uptodate.com/contents/search. Accessed Oct. 1, 2025. Kwiatkowski JL. Approach to the patient with suspected iron overload. https://www.uptodate.com/contents/search. Accessed Oct. 13, 2025. Hemosiderosis. Merck Manual Professional Version. https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hemosiderosis. Accessed Oct. 13, 2025. Goldman L, et al., eds. Iron overload (hemochromatosis). In: Goldman-Cecil Medicine. 27th ed. Elsevier; 2024. https://www.clinicalkey.com. Accessed Oct. 20, 2025. Adam MP, et al., eds. HFE-related hemochromatosis. In: GeneReviews. University of Washington, Seattle; 1993-2025. https://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed Oct. 1, 2025. Hereditary hemochromatosis algorithm. Mayo Clinic Laboratories. https://www.mayocliniclabs.com/-/media/it-mmfiles/Special-Instructions/9/A/8/Hereditary_Hemochromatosis_Algorithm.pdf. Accessed Oct. 1, 2025. Ferritin, serum. Mayo Clinic Laboratories. https://www.mayocliniclabs.com/test-catalog/overview/619953#clinical-and-interpretive. Accessed Oct. 1, 2025. Adams P, et al. Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype. Hepatology International. 2018; doi:10.1007/s12072-018-9855-0. Phatak P, et al. Management and prognosis of hereditary hemochromatosis. https://www.uptodate.com/contents/search. Accessed Oct. 22, 2025. 相关 相关医疗程序 基因检测 磁共振成像 肝功能检测 针刺活检 显示更多相关医疗程序 产品与服务 书籍:《妙佑医疗国际家庭健康手册》 简报:妙佑医疗国际卫生来信 — 数字版 显示更多来自妙佑医疗国际的产品和服务 血色素沉着症症状与病因诊断与治疗分期生存率医生与科室在 Mayo Clinic 治疗 CON-20157212 疾病与状况 血色素沉着症