title: Prevalence of HFE mutations in California newborns.
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.
authors.affiliation: Department of Hematology/Oncology, Children's Hospital and Research Center at Oakland, Oakland, California 94609, USA. CHoppe@mail.cho.org
authors.forename: Carolyn
authors.initials: C
authors.lastname: Hoppe
authors.forename: Robert M
authors.initials: RM
authors.lastname: Watson
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Long
authors.forename: Fred
authors.initials: F
authors.lastname: Lorey
authors.forename: Lara
authors.initials: L
authors.lastname: Robles
authors.forename: William
authors.initials: W
authors.lastname: Klitz
authors.forename: Lori
authors.initials: L
authors.lastname: Styles
authors.forename: Elliott
authors.initials: E
authors.lastname: Vichinsky
mesh_terms: D002140:California / Q000453:epidemiology / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000706:statistics & numerical data; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017720:Molecular Epidemiology / Q000379:methods; D020125:Mutation, Missense; D015997:Neonatal Screening; D015995:Prevalence; D044469:Racial Groups / Q000235:genetics
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins