{Reference Type}: English Abstract
{Title}: [Management of iron overload during pregnancy and childbirth in a patient with ferroportin disease].
{Author}: Ohara K;Tsuge N;Watanabe S;Eda H;Ogasawara F;Kondo T;Yoshida S;Kojima K;
{Journal}: Rinsho Ketsueki
{Volume}: 64
{Issue}: 11
{Year}: 2023
暂无{DOI}: 10.11406/rinketsu.64.1410
{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.