Primary hemochromatosis in childhood.
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.
Escobar
G J
GJ
Department of Pediatrics, University of California, San Francisco 94143.
Heyman
M B
MB
Smith
W B
WB
Thaler
M M
MM
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005293:Ferritins / Q000097:blood; D006680:HLA Antigens / Q000032:analysis; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007501:Iron / Q000378:metabolism; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014168:Transferrin / Q000378:metabolism
D006680:HLA Antigens; D014168:Transferrin; D005293:Ferritins; D007501:Iron