Refractory anemia: Think about genetic iron metabolism defects!

Abstract

Introduction: Inherited iron metabolism defects are usually expressed by hypochromic microcytic anemia. They are very exceptional and often misdiagnosed by clinicians. We aimed to report an exceptional case of congenital hypotransferrinemia revealed by a precocious anemia. Case report: We report the case of a seven-months-old girl born of a second degree consanguineous marriage. She was referred for persistent anemia since one month of age. She had received iron supplementation for four months and two transfusions of packed red blood cells. The diagnosis of congenital hypotransferrinemia was suspected on the basis of refractory anemia, low serum iron level with an increased serum ferritin. Serum transferrin level was of 0.15 g/L. DNA analysis of the serum transferrin gene revealed a mutation in exon 4, a G-->A transition at cDNA 410(Cys137Tyr). Given the non-availability of apo-transferrin, therapeutic management was based on regular infusions of fresh frozen plasma and iron chelation. Conclusions: Hypotransferrinemia though rare should be ruled out in all cases of treatment refractory microcytic hypochromic anemia.