CLINICAL FEATURES, PATHOLOGY, AND THERAPY OF HEMOCHROMATOSIS

The classic monograph written by Sheldon in 1935 1 crystallized knowledge of 311 cases of hemochromatosis and increased understanding of the clinical, pathological, and etiological features of this disease. Since that time, excellent studies of large series of cases of hemochromatosis have been reported. These include clinical and pathological reports, 2 clinical investigations of patients, 3 comparisons of hemochromatosis and hemosiderosis, 4 the association of aplastic anemia with hemochromatosis, 5 studies of iron metabolism, 6 and studies of radioactive isotopic iron absorption. 7 More recently, a rational treatment of hemochromatosis with repeated phlebotomy, 8 over a long period of time or with chelating agents, 9 which enhance the excretion of urinary iron, has been instituted. This paper briefly reviews the literature on hemochromatosis, reports clinical and pathological data on 46 patients, and describes the discovery of two, or possibly three, groups of patients with hereditofamilial hemochromatosis. CAUSES AND DEVELOPMENT Little