title: Analysis of hemochromatosis gene mutations in 52 consecutive patients with polycythemia vera.
abstract: A literature review reports increased erythrocyte indices [hemoglobin concentration, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin (MCH), MCH concentration] in subjects with hereditary hemochromatosis (HH). We, therefore, screened 52 consecutive patients with polycythemia vera for 12 HH gene mutations, comparing iron status and red cell parameters between patients positive or negative for HH gene mutations. Our results support the evidence that there is no association between these two conditions.
authors.affiliation: Servizio di Immunoematologia e Trasfusione, Centro Emofilia, Azienda Ospedaliera di Verona, Verona, Italy. mfranchini@mail.univr.it
authors.forename: Massimo
authors.initials: M
authors.lastname: Franchini
authors.forename: Giovanna
authors.initials: G
authors.lastname: de Matteis
authors.forename: Francesca
authors.initials: F
authors.lastname: Federici
authors.forename: Pietro
authors.initials: P
authors.lastname: Solero
authors.forename: Dino
authors.initials: D
authors.lastname: Veneri
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D006432:Hemochromatosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011087:Polycythemia Vera; D011237:Predictive Value of Tests
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins