title: Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.
abstract: Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not. As an alternative to conventional genetic testing we propose diagnostic use of whole exome sequencing for characterization of non-HFE hemochromatosis. To illustrate the effectiveness of whole exome sequencing as a diagnostic tool, we present the case of an 18-year-old female with a probable case of juvenile hemochromatosis, who was referred for specialty care after testing negative for commonly occurring HFE variants. Whole exome sequencing offered complete coverage of target genes and is a fast, cost effective diagnostic tool for characterization of non-HFE hemochromatosis.
authors.affiliation: University of Utah School of Medicine, Hematology Division, 30North 1900 East, Salt Lake City, UT 84132, United States.
authors.forename: Colin P
authors.initials: CP
authors.lastname: Farrell
authors.affiliation: University of Utah School of Medicine, Hematology Division, 30North 1900 East, Salt Lake City, UT 84132, United States.
authors.forename: Charles J
authors.initials: CJ
authors.lastname: Parker
authors.affiliation: University of Utah School of Medicine, Hematology Division, 30North 1900 East, Salt Lake City, UT 84132, United States. Electronic address: john.phillips@hsc.utah.edu.
authors.forename: John D
authors.initials: JD
authors.lastname: Phillips
mesh_terms: D000293:Adolescent; D059472:Exome; D005260:Female; D006432:Hemochromatosis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans
keywords: Hemochromatosis; Hemojuvelin; Hepcidin; Iron overload; Transferrin receptor 2