PEDIATRICS Vol. 80 No. 4 October 1987, pp. 549-554
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Primary Hemochromatosis in Childhood

Gabriel J. Escobar MD1, Melvin B. Heyman MD, MPH1, W. Byron Smith MD1, and M. Michael Thaler MD1

1 From the Department of Pediatrics, University of California, San Francisco

Primary hemochromatosis is a genetic disorder rarely recognized in childhood; its long-term consequences include cirrhosis and liver cancer. We report a family with primary hemochromatosis affecting three generations, including a 7-year-old child and a 29-month-old child; these are the youngest children with primary hemochromatosis yet reported. The pathophysiology, genetics, and clinical findings of this disorder are reviewed. Serum ferritin and transferrin saturation are useful screening tests; definitive diagnosis, however, depends on determination of hepatic iron content. A plan for evaluating and treating affected patients is proposed. Physicians caring for children must learn to recognize this potentially treatable disorder.

Key Words: hemochromatosis • iron • ferritin • transferrin • liver • computed tomography

Submitted on June 16, 1986
Accepted on November 10, 1986




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