A simple genetic test identifies 90% of UK patients with haemochromatosis

Gut

Volumn 41, Issue 6, 1997, Pages

  Robson, K J H ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

C282Y; Genetic testing; H63D; Haemochromatosis; HFE; HLA H; Iron overload

Indexed keywords

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; IRON METABOLISM; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; UNITED KINGDOM;

EID: 0005600868     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.41.6.841     Document Type: Article

References (17)

1. Worwood M. Genetics of haemochromatosis. Baillieres Clin Haematol 1994; 7: 903-18.
2. Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of haemochromatosis amongst asymptomatic Australians. Br J Haematol 1990; 74: 525-30.
3. Bothwell TH, Chariton RW, Motulsky AG. Hemochromatosis. In: The metabolic and molecular bases of inherited disease. New York: McGraw Hill, 1995: 2237-69.
4. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996; 110: 1107-19.
5. Simon M, Pawlotsky Y, Bourel M, Fauchet R, Genetet B. Hemochromatose idiopathique: maladie associee a l'antigene tissulaire HLA-A3? Nouvelle Pressc Medicine 1975; 4: 1432.
6. Raha-Chowdhury R, Biwen DJ, Stone C, Pointon JJ, Terwilliger JD, Shearman JD, et al. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet 1995; 4: 1869-74.
7. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
8. Worwood M, Darke C. Serum ferritin, blood donation, iron stores and haemochromatosis. Transfus Med 1993; 3: 21-8.
9. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, et al. Mutation analysis in hereditary haemochromatosis. Blood Cells Mol Dis 1996; 22: 187-94.
10. Jouanolle AM, Gandon G, Blayau M, Campion ML, Yaouanq J, Mosser J, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14: 251-2.
11. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LP, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14: 249-51.
12. Powell LW, Jazwinska E, Halliday JW. Primary iron overload. In: Iron metabolism in health and disease. 1994: 227-70.
13. Roberts AG, Whatley SD, Morgan R, Lawless S, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 321-3.
14. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH. Global prevalence of putative haemochromatosis mutations. J Med Genet 1197; 34: 275-8.
15. Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterology 1995; 109: 177-88.
16. Barton JC, Bertoli LF. Hemochromatosis: the genetic disorder of the twentyfirst century. Nat Med 1996; 2: 394-5.
17. Powell LW. Hemochromatosis: the impact of early diagnosis and therapy. Gastroenterology 1996; 110: 1304-7.