Primary Hemochromatosis in Children: Report of Three Newly Diagnosed Cases and Review of the Pediatric Literature

Abstract

Hereditary hemochromatosis was diagnosed in three asymptomatic siblings following the unexpected finding of elevated serum iron concentrations. This diagnosis was confirmed by hepatic biopsy. Repeated phlebotomies resulted in a significant decline of serum iron and ferritin concentrations and a decrease of hepatic iron content. This report and a review of the literature indicate that the diagnosis of hereditary hemochromatosis must be considered more frequently in childhood. Organ dysfunction from iron overload may be minimized in children by the early commencement of regular phlebotomy.

Hereditary Hemochromatosis Not Associated with Common HFE Gene Mutation in Japanese Siblings

“…Therefore, diagnosis in the asymptomatic stage is critical and prophylactic phlebotomy must be performed because potential organ damage cannot be reliably predicted (11). In the two patients discussed herein, phlebotomies were harmless and effective, as previously reported (4,12). Physicians caring for children must learn to recognize this potentially treatable disorder.…”

“…Although the genetic defect is present at birth, HH is rarely recognized in childhood (4,7). After a typically long asymptomatic period, the majority of symptoms develop between the ages of 40 and 60 years.…”

“…The findings reported herein indicate that liver enzyme abnormality of unknown etiology should also be included in this list of disorders. Kaikov et al (4) reported that 11 of 16 children with symptomatic HH died within 2 years of diagnosis, whereas 29 other children diagnosed in the asymptomatic stage recovered completely. Therefore, diagnosis in the asymptomatic stage is critical and prophylactic phlebotomy must be performed because potential organ damage cannot be reliably predicted (11).…”

“…It is the most common metabolic disorder in the white population, and the majority of patients are homozygous for the C282Y mutation in HFE gene on the short arm of chromosome 6 (1). HH is rare in Japanese individuals (2,3) and usually remains undetected in childhood (4). We encountered two Japanese boys tentatively diagnosed with chronic asymptomatic hepatitis who were later recognized to have HH.…”

Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato‐Oncologia Pediatrica) study group

“…37 Phlebotomy therapy remains the best therapeutic option in HC 13,38 and has been applied in children. 39,40 However, not all patients are candidates for phlebotomy due to underlying poor venous access, anaemia or heart disease. Compliance with regular phlebotomy may be an issue, as a number of patients report negative experiences related to treatment in the induction and maintenance phases.…”