Hereditary Hemochromatosis in Siblings: Diagnosis by Genotyping

Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism, with a worldwide prevalence in whites of approximately 3 to 5 per 1000 population.^1–3 Unrecognized HH can lead to cirrhosis, diabetes mellitus, hyperpigmentation, and impotence in untreated individuals.³ Although usually not symptomatic until the ages of 50 to 70, HH has been described in children. Screening first-degree relatives of a person with HH has identified many children although symptomatic HH remains uncommon in children. However, with such a high prevalence of HH it is safe to say that all pediatricians have seen an affected child, but in the asymptomatic period. One of the principle tasks of the pediatrician is prevention; HH is a condition that, identified in the presymptomatic period, can be treated, avoiding potentially life-threatening complications. Recently a genetic defect has been described on the short arm of chromosome 6 that is found in nearly 90% of patients studied with HH.^3,,4 Commercial testing for HH via mutational analysis is now possible. Once the general public becomes aware of the availability of HH testing, the pediatrician will be called on to screen potential affected children. In this article we describe a pair of siblings with HH identified by mutational analysis. Further, we review HH in children and discuss the rationale for screening children for this common inherited disorder.