Subject(s)
Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 21 , Chromosomes, Human, Pair 8 , Core Binding Factor Alpha 2 Subunit , Leukemia, Myeloid, Acute , RUNX1 Translocation Partner 1 Protein , Translocation, Genetic , Humans , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/diagnosis , Core Binding Factor Alpha 2 Subunit/genetics , RUNX1 Translocation Partner 1 Protein/genetics , Chromosomes, Human, Pair 21/genetics , Chromosomes, Human, Pair 8/genetics , Chromosomes, Human, Pair 14/genetics , Oncogene Proteins, Fusion/genetics , Chromosomes, Human, Pair 15/genetics , MaleABSTRACT
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.
