Diagnosis and management of hereditary hemochromatosis

Hereditary hemochromatosis is inherited in an autosomal recessive manner with partial biochemical expression in heterozygotes. A high percentage of saturation of serum transferrin is the hallmark of the disorder, and serum ferritin concentration gives an approximate estimation of the size of iron stores. Hepatic computed tomography, magnetic susceptometry, and nuclear magnetic resonance provide new noninvasive ways of determining hepatic iron content, but chemical estimation of iron in a percutaneous liver biopsy specimen remains the mainstay of diagnosis. Once a proband is identified, transferrin saturation and serum ferritin are used to screen family members and HLA typing is employed selectively to detect homozygotes at risk. Removal of excess body iron and maintenance of normal iron stores by repeated venesection arrests tissue injury and prolongs survival.