Refractory microcytic hypochromic anemia with type I diabetes mellitus and reversible cardiac haemochromatosis in congenital hypotransferrinemia

Background: Hypotransferrinemia is a rare cause of anemia presenting in early childhood. The clinical scenario may mimic iron deficiency anemia at onset with no response to multiple courses of hematinics. Secondary complications may be due to iron overload in the liver and other organs. Case report: We report a rare case of congenital hypotransferrinemia in an adolescent girl who presented with microcytic hypochromic anemia refractory to iron therapy in infancy. During long-term follow-up, she developed cardiac failure due to secondary hemochromatosis, which was managed successfully with chelation therapy. Conclusion: Hypotransferrinemia should be considered as a differential diagnosis of microcytic hypochromic anemia refractory to iron therapy in infancy. Regular follow-up and monitoring are essential to look for evidence of iron overload and optimize chelation therapy to prevent complications.