title: HFE gene mutations in patients with acute leukemia.
abstract: An increased incidence of HFE gene mutations has been described in hematologic malignancies. In the present study, we investigated the allelic frequency of HFE gene mutations in 154 adult patients with acute leukemia (AL) [107 acute myeloid leukemia (AML), 20 acute promyelocytic leukemia (APL) and 27 acute lymphoblastic leukemia (ALL)]. The allelic frequency of the H63D mutation was 29% in AL patients and 25% in the healthy controls [P = 0.41; odds ratio (OR) = 1.20; 95% confidence interval (CI) = 0.77 - 1.93]. No difference was found between controls and AML or APL patients, whereas the H63D mutation was significantly more frequent in ALL than controls (44% vs. 25%, P = 0.04; OR = 2.37; 95% CI = 1.05 - 5.36). The overall comparison of the mutation among the three subtypes of AL demonstrated a higher allelic frequency in ALL (P = 0.02). In conclusion, our data demonstrate a correlation between the presence of the H63D mutation and the occurrence of ALL in adult patients.
authors.affiliation: Divison of Hematology and Stem Cell Transplantion Unit, Cardarelli Hospital, Naples, Italy. nucciaviola@libero.it
authors.forename: Assunta
authors.initials: A
authors.lastname: Viola
authors.forename: Leonilde
authors.initials: L
authors.lastname: Pagano
authors.forename: Daniela
authors.initials: D
authors.lastname: Laudati
authors.forename: Rossella
authors.initials: R
authors.lastname: D'Elia
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: D'Amico
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Ammirabile
authors.forename: Salvatore
authors.initials: S
authors.lastname: Palmieri
authors.forename: Luciano
authors.initials: L
authors.lastname: Prossomariti
authors.forename: Felicetto
authors.initials: F
authors.lastname: Ferrara
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001224:Aspartic Acid / Q000235:genetics; D005260:Female; D005838:Genotype; D000071020:Hemochromatosis Protein; D006639:Histidine / Q000235:genetics; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D001224:Aspartic Acid; D006639:Histidine