Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene

Blood

Volumn 104, Issue 7, 2004, Pages 2181-2183

  Matthes, Thomas ^a   Aguilar Martinez, Patricia ^b   Pizzi Bosman, Loredana ^b   Darbellay, Régis ^b   Rubbia Brandt, Laura ^b   Giostra, Emilio ^b   Michel, Martine ^b   Ganz, Tomas ^b   Beris, Photis ^b  

^a HUG   (Switzerland)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; HEPCIDIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HAMP GENE; HEMOCHROMATOSIS; HUMAN; HUMAN TISSUE; IRON STORAGE; MALE; MUTATIONAL ANALYSIS; PARENCHYMA; PHLEBOTOMY; PORTUGAL; PRIORITY JOURNAL; PROTEIN SYNTHESIS; PROTEIN URINE LEVEL; RNA TRANSLATION; TRANSLATION INITIATION; TREATMENT OUTCOME; UNTRANSLATED REGION;

EID: 4644227621     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-01-0332     Document Type: Article

References (17)

1. Ajioka RS, Kushner JP. Hereditary hemochromatosis. Semin Hematol. 2002;39:235-241.
2. Park C, Valore E, Waring A, Ganz T. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem. 2001;276:7806-7810.
3. Pigeon C, Ilyin G, Courselaud B, et al. A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem. 2001;276:7811-7819.
4. Ganz T. Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation. Blood. 2003;102:783-788.
5. Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003;33:21-22.
6. Roetto A, Daraio F, Porporato P, et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood. 2004;103:2407-2409.
7. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004;36:77-82.
8. Deugnier Y, Turlin B, Powell L, et al. Differentiation between heterozygotes and homozygotes in genetic hemochromatosis by means of a histologic hepatic iron index: a study of 192 cases. Hepatology. 1993;17:30-34.
9. Nemeth E, Valore EV, Territo M, Schiller G, Lichtenstein A, Ganz T. Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein. Blood. 2003;101:2461-2464.
10. Aguilar-Martinez P, Jeanjean P, Masmejean C, Biron C, Rabesandratana H, Schved JF. Simple and rapid detection of the newly described mutations in the HLA-H gene. Blood. 1997;89:1835-1836.
11. Deutsch S, Rideau A, Bochaton-Piallat ML, et al. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Blood. 2003;102:529-534.
12. Hoogland C, Mostaguir K, Sanchez J-C, Hochstrasser DF, Appel RD. SWISS-2DPAGE, 10 years later. Proteomics. 2004;4:2352-2356.
13. Kozak M. Emerging links between initiation of translation and human diseases. Mamm Genome. 2002;13:401-410.
14. Mathews MB, Sonenberg N, Hershey JWB. Origins and targets of translational control. In: Hershey JWB, Mathews MB, Sonenberg N, eds. Translational Control. Cold Spring Harbor, NY: Cold Spring Harbor Press; 1996:1-21.
15. Cai SP, Eng B, Francombe WH, et al. Two novel beta-thalassemia mutations in the 5′ and 3′ non-coding regions of the beta-globin gene. Blood. 1992;79:1342-1346.
16. Kanaji T, Okamura T, Osaki K, et al. A common genetic polymorphism in the 5′-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood. 1998;6:2010-2014.
17. Kraft HG, Windegger M, Menzel HJ, et al. Significant impact of the +93 C/T polymorphism in the apolipoprotein (a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effects of linkage disequilibrium. Hum Mol Gen. 1998;7:257-264.