HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload

Haematologica

Volumn 95, Issue 4, 2010, Pages 687-688

  Aguilar Martinez, Patricia ^a   Giansily Blaizot, Muriel ^a   Bismuth, Michael ^a   Cunat, Séverine ^a   Igua, Hélène ^a   Schved, Jean François ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

HAMP nc. 153C>T; Hepcidin promoter mutation; Non HFE hemochromatosis

Indexed keywords

CYTOSINE; FERRITIN; HEPCIDIN; TRANSFERRIN; TYROSINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; FRANCE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IRON OVERLOAD; LETTER; LIVER BIOPSY; MUTATIONAL ANALYSIS; PATHOGENESIS; PATIENT REFERRAL; PHLEBOTOMY; PROMOTER REGION;

AGED; ANTIMICROBIAL CATIONIC PEPTIDES; GENOTYPE; HOMOZYGOTE; HUMANS; IRON OVERLOAD; MALE; MIDDLE AGED; MUTATION; PROMOTER REGIONS, GENETIC; RESPONSE ELEMENTS;

EID: 77950677373     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.018028     Document Type: Letter

References (4)

1. Island ML, Jouanolle AM, Mosser A, Deugnier Y, David V, Brissot P, et al. A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis. Haematologica. 2009;94(5):720-4.
2. Aguilar-Martinez P, Bismuth M, Picot MC, Thelcide C, Pageaux GP, Blanc F, et al. Variable phenotypic presentation of iron over- load in H63D homozygotes: are genetic modifiers the cause? Gut. 2001;48(6):836-42.
3. Aguilar Martinez P, Giansily-Blaizot M, Jeanjean P, Igual H, Piganiol, Schved JF. A rare haplotype of the HAMP gene with high allele frequency among patients with iron overload and an atypical HFE genotype. BioIron 2005; Prague, Czech Republic; 2005. p. 73.
4. Barton JC, Leiendecker-Foster C, Li H, DelRio-LaFreniere S, Acton RT, Eckfeldt JH. HAMP promoter mutation nc.-153C>T in 785 HEIRS Study participants. Haematologica 2009;94(10):1465; author reply 1465-6. Tissue Antigens. 2001;58(5):281-92.