Abstract：
An asymptomatic woman in her early 40s with a history of hyperferritinemia (5,412 ng/ml) was referred to our hospital after repeated phlebotomy for hemosiderosis. She had unexplained hyperferritinemia, low-normal transferrin saturation, and high hepcidin levels, in the absence of iron overload-induced organ injury. She was diagnosed with ferroportin disease based on detection of the SLC40A1 variant SLC40A1 c.485_487del (p.Val162del) on genetic analysis. Her ferritin levels remained stable during pregnancy, and postpartum anemia was successfully treated with 2-week oral iron therapy. Ferroportin disease is characterized by impaired iron export and preferential iron trapping in tissue macrophages. To reduce risk of anemia, a non-aggressive phlebotomy regimen is recommended in patients with ferroportin disease, which shows a milder clinical course compared with other classical hemochromatosis subtypes.
摘要：
一名40多岁的无症状妇女，有高铁蛋白血症（5,412ng/ml）病史，在反复进行含铁血黄素沉着放血后被转诊到我院。她患有无法解释的高铁蛋白血症,低正常转铁蛋白饱和度，和高铁调素水平，在没有铁过载引起的器官损伤的情况下。根据SLC40A1变体SLC40A1c.485_487del的检测，她被诊断出患有铁转运蛋白病（p。Val162del）关于遗传分析。她的铁蛋白水平在怀孕期间保持稳定，产后贫血通过2周口服铁剂治疗成功。铁蛋白疾病的特征是铁输出受损和组织巨噬细胞中的优先铁捕获。为了降低贫血的风险，非积极的静脉切开术方案是推荐在患者的铁转运蛋白疾病，与其他经典的血色素沉着病亚型相比，临床病程更温和。
