%0 English Abstract
%T [Management of iron overload during pregnancy and childbirth in a patient with ferroportin disease].
%A Ohara K
%A Tsuge N
%A Watanabe S
%A Eda H
%A Ogasawara F
%A Kondo T
%A Yoshida S
%A Kojima K
%J Rinsho Ketsueki
%V 64
%N 11
%D 2023
%M 38072426
暂无%R 10.11406/rinketsu.64.1410
%X 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.