Congenital spherocytosis with hereditary hemochromatosis without pathogenic mutations in the HFE gene.

Abstract

We report a case of an 80-year-old woman with congenital spherocytosis who presented with massive iron overload. Iatrogenic iron overload could be ruled out. Familial history was suggestive of hereditary hemochromatosis; however, molecular genetic testing for the most common HFE mutations remained negative. The patient was treated successfully with phlebotomies. The hypothesis that this patient suffered from hereditary hemochromatosis is discussed on the basis of a brief review of the literature.