[Iron deficiency anaemia due to a matriptase-2 mutation].

摘要: A 36-year old female patient who had iron deficiency anaemia since her childhood showed no clear response to oral treatment. Elevated serum hepcidin levels were found after excluding other causes of deficiency. This is in contrast what expected and indicates a primary defect regulation. Indeed, the search for genes coding hepcidin-regulating proteins was be compound heterozygous two different mutations TMPRSS6 gene. leads dysfunctional matriptase-2 protein which gene codes. Consequently, liver cells cannot inhibit production presence low levels. High result less being absorbed from bowel than necessary erythropoiesis. Therefore, patients with respond poorly treatment have treated intravenous iron.