Relation between HFE mutations and mild iron-overload expression

Molecular Genetics and Metabolism

Volumn 69, Issue 4, 2000, Pages 295-301

  Mura, Catherine ^a   Le Gac, Gérald ^a   Raguénes, Odile ^a   Mercier, Anne Yvonne ^a   Le Guen, Alain ^b   Férec, Claude ^a  

^a BREST UNIVERSITY HOSPITAL   (France)

^b SERVICE DE RHUMATOLOGIE   (France)

Author keywords

Hemochromatosis; HFE; Iron overloading; Mutation analysis

Indexed keywords

DNA; FERRITIN; IRON; TRANSFERRIN;

ADULT; ARTICLE; FEMALE; GENE; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034083908     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.2981     Document Type: Article

References (25)

1. Edwards C Q, Griffen L M, Goldgar D, Drummond C, Skolnick M H, Kushner J P. Prevalence of hemochromatosis among 11065 presumably healthy blood donors. N Engl J Med. 318:1988;1355-1362.
2. Leggett B A, Halliday J W, Brown N N, Bryant S, Powell L W. Prevalance of heamochromatosis among asymptomatic Australians. Br J Haematol. 74:1990;525-530.
3. Borecki I B, Rao D C, Yaounq J, Lalouel J M. Serum ferritin as a marker of affection for genetic hemochromatosis. Hum Hered. 40:1990;159-166.
4. Bulaj Z J, Griffin L M, Jorde L B, Edwards C Q, Kushner J P. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med. 335:1996;1799-1805.
5. Moirand R, Adams P C, Bicheler V, Brissot P, Deugnier Y. Clinical features of genetic hemochromatosis in women compared with men. Ann Intern Med. 127:1997;105-110.
6. Burt M J, George P M, Upton J D, Collett J A, Frampton C MA, Chapman T M, Walmsley T A, Chapman B A. The significance of haemochromatosis gene mutations in the general population: Implications for screening. Gut. 43:1998;830-836.
7. Feder J N, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy D A, Basava A, Dormishian F, Domingo R, Ellis M C, Fullan A, Hinton L M, Jones N L, Kimmel B E, Kronmal G S, Lauer P, Lee V K, Loeb D B, Mapa F A, McClelland E, Meyer N C, Mintier G A, Moeller N, Moore T, Morikang E, Prass C E, Quintana L, Starnes S M, Schatzman R C, Brunke K J, Drayna D T, Rish N J, Bacon B R, Wolff R K. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet. 13:1996;399-408.
8. Mercier B, Mura C, Férec C. Putting a hold on HLA-H. Nature Genet. 15:1997;34.
9. Jazwinska E C, Cullen L M, Busfield F, Pyper W R, Webb S I, Powell L W, Morris C P, Walsh T P. Haemochromatosis and HLA-H. Nature Genet. 14:1996;249-251.
10. Jouanolle A M, Gandon G, Jézéquel P, Blayau M, Campion M L, Yaouanq J, Mosser J, Fergelot P, Chauvel B, Bouric P, Carn G, Andrieux N, Gicquel I, Le Gall J Y, David V. Haemochromatosis and HLA-H. Nature Genet. 14:1996;251-252.
11. Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino M A, Piperno A, Girelli D, Roetto A, Franco B, Gasparini P, Camashella C. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet. 60:1997;828-832.
12. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, Kosty M, Venditti C P, Phatak P D, Seese N K, Chorney K A, Ten Elshof A E, Gerhard G S, Chorney M. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis. 22:1996;187-194.
13. Mura C, Nousbaum J B, Verger P, Moalic M T, Raguenes O, Mercier A Y, Ferec C. Phenotype-genotype correlation in haemochromatosis patients. Hum Genet. 101:1997;271-276.
14. Feder J N, Tsuchihashi Z, Irrinki A, Lee V K, Mapa F A, Morikang E, Prass C E, Starnes S M, Wolff R K, Parkkila S, Sly W S, Schatzman R C. The hemochromatosis founder mutation in HLA-H disrupts β2-microglobulin interaction and cell surface expression. J Biol Chem. 272:1997;14025-14028.
15. Waheed A, Parkkila S, Zhou X Y, Tomatsu S, Tsuchihashi Z, Feder J N, Schatzman R C, Britton R S, Bacon B R, Sly W S. Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellualar processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci USA. 94:1997;12384-12389.
16. Feder J N, Penny D M, Irrinki A, Lee V K, Lebron J A, Watson N, Tsuchihashi Z, Sigal E, Bjorkman P J, Schatzman R C. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA. 95:1998;1472-1477.
17. Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis. Blood. 93:1999;2502-2505.
18. Edwards C Q, Kushner J P. Screening for hemochromatosis. N Engl J Med. 328:1993;1616-1620.
19. Crawford D HG, Jazwinska E C, Cullen L M, Powell L W. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology. 114:1998;1003-1008.
20. Brissot P, Moirand R, Jouanolle A M, Guyader D, Le Gall J Y, Deugnier Y, David V. A genotypic study of 217 unrelated probands as "genetic hemochromatosis" on classical phenotypic criteria. J Hepatol. 30:1999;588-593.
21. Risch N. Haemochromatosis, HFE and genetic complexity. Nature Genet. 17:1997;375-376.
22. Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 61:1997;762-764.
23. Moirand R, Jouanolle A M, Brissot P, Le Gall J Y, David V, Deugnier Y. Phenotypic expression of HFE mutations: A french study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology. 116:1999;372-377.
24. Moirand R, Mortaji A M, Loréal O, Paillard F, Brissot P, Deugnier Y. A new syndrome of liver iron overload with normal transferrin. Lancet. 349:1997;95-97.
25. Adams P C, Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnosis criteria. Gastroenterology. 114:1998;319-323.