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Abstract
Advances in molecular diagnostics have led to an increased interest in expanding population-based screening to include genetic diseases that occur outside the newborn period. Hereditary hemochromatosis may be a candidate for large-scale screening in populations with a high prevalence of the common HFE mutations. To determine race-specific frequencies of the HFE mutations, C282Y and H63D, the authors applied an automated, high-throughput genotyping method to dried blood spot samples from a representative population of California newborns. In this sample of 3989 newborns, C282Y and H63D allele frequencies were highest in white (C282Y: 5.5 ± 0.5%; H63D: 13.4 ± 0.76%) and Hispanic (C282Y: 1.8 ± 0.29%; H63D: 11.9 ± 0.72%) newborns, and lowest in black (C282Y: 1.3 ± 0.25%; H63D: 3.0 ± 0.38%) and Asian (C282Y 0.5 ± 0.16%; H63D 2.9 ± 0.37%) newborns. The estimated prevalence of C282Y homozygotes in this multiracial population is 1.4/1000. As additional genetic and environmental risk factors for HHC are identified, neonatal screening may become an acceptable strategy to follow susceptible individuals and prevent clinical disease.