Hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis.

A family is described in which four of six siblings have both hereditary spherocytosis and evidence of abnormal iron metabolism. Three of the four have significant iron overload. HLA typing, which permits the detection of the gene for hemochromatosis, indicates that all family members with hereditary spherocytosis who have abnormal iron metabolism or significant iron overload are heterozygous for the hemochromatosis gene. Family members having hereditary spherocytosis but not the gene for hemochromatosis have normal iron studies as does a family member heterozygous for hemochromatosis but no hereditary spherocytosis. Based on the findings in this kindred, it appears that the combination of chronic hemolysis and the gene for hemochromatosis results in increased iron absorption that may lead to significant iron overload.