The diagnosis of iron deficiency anemia was made based on low serum iron level and low transferrin saturation and patient started on oral iron treatment. Six months later, follow up appointment showed similar CBC and RBC morphology. Pt has no GI problem. IV iron injection was started and her Hb increased to 9g/dl two weeks after. Molecular test showed TMPRSS6 mutation.
Diagnosis: hereditary iron-refractory iron-deficiency anemia
- Autosome recessive, due to a defect in the TMPRSS6 gene (22q12.3) encoding Matriptase-2.
- Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values.
- Refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia.
- Serum ferritin level not decreased or slightly low; serum iron low
- Not like other hereditary anemia, not present at birth.
Diagnosis: hereditary iron-refractory iron-deficiency anemia
- Autosome recessive, due to a defect in the TMPRSS6 gene (22q12.3) encoding Matriptase-2.
- Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values.
- Refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia.
- Serum ferritin level not decreased or slightly low; serum iron low
- Not like other hereditary anemia, not present at birth.