Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda

Lancet

Volumn 349, Issue 9048, 1997, Pages 321-323

  Roberts, Andrew G ^a   Whatley, Sharon D ^a   Morgan, Rhian R ^a   Worwood, Mark ^a   Elder, George H ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1;

ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; INHERITANCE; IRON STORAGE; MALE; NORMAL HUMAN; PHLEBOTOMY; POLYMERASE CHAIN REACTION; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; SIDEROSIS;

EID: 0031016791     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(96)09436-6     Document Type: Article

References (25)

1. Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The molecular and metabolic basis of inherited disease. 7th ed. New York: McGraw-Hill, 1995: 2103-59.
2. Elder GH, Urquhart AJ, De Salamanca RE, Munoz JJ, Bonkovsky HL. Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda. Lancet 1985; ii: 229-33.
3. Garey JR, Franklin KF, Brown DA, Harison LM, Metcalf KM, Kushner JP. Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda. Gastroenterology 1993; 105: 165-69.
4. Lundvall O, Weinfeld A, Lundin P. Iron storage in porphyria cutanea tarda. Acta Med Scand 1970; 188: 37-53.
5. Edwards CQ, Griffen LM, Goldgar DE, Skolnick MH, Kushner JP. HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda. Gastroenterology 1989; 97: 972-81.
6. Elder GH, Roberts AG. Uroporphyrinogen decarboxylase. J Biomembr Bioenerg 1995; 27: 207-14.
7. Lundvall O. The effect of phlebotomy therapy in porphyria cutanea tarda. Acta Med Scand 1971; 189: 33-49.
8. Adams PC, Powell LW. Porphyria cutanea tarda and HLA-linked hemochromatosis - all in the family? Gastroenterology 1987; 92: 2033-35.
9. Raha-Chowdhury, Bowen DJ, Stone C, et al. New polymorphic micro satellite markers place the haemo-chromatosis gene telomeric to D6S105. Hum Mol Genet 1996; 4: 1869-74.
10. Kuntz BME, Goerz G, Merk H, Strohmeyer G, Bruster HT: HLA-A3 and B7 in porphyria cutanea tarda. Tissue Antigens 1984; 24: 67-69.
11. Roberts AG, Whatley SD, Nicklin S, et al. The frequency of haemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda. Hepatology 1997; 25: 159-61.
12. Fargion S, Fracanzano AL, Romano R, et al. Genetic hemochromatosis in Italian patients with porphyria cutanea tarda: possible explanation for iron overload. J Hepatol 1996; 24: 564-69.
13. Santoianni P, de Felice M, Ayala F, Budillon G, Zappacosta S. A novel association between HLA and disease: porphyria cutanea tarda and DLA-AW32. Dermatologica 1980; 160: 371-75.
14. Llorente L, Salamanca RE, Campillo F, Pena ML. HLA and porphyria cutanea tarda. Arch Dermatol Res 1980; 269: 209-10.
15. Kostler VE, Gebhardt B, Seebacher C. HLA system and porphyria cutanea tarda. Dtsch Z Verdau Stoffweckselkr 1984; 44: 95-100.
16. Beaumont C, Fauchet R, Phung LN, de Verneuil H, Gueguen M, Nordmann Y. Porphyria cutanea tarda and HLA-linked hemochromatosis: evidence against a systematic association. Gastroenterology 1987; 92: 1833-38.
17. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
18. Beutler E, Gelbert T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22; 187-94.
19. Worwood M, Darke C. Serum ferritin, blood donation, iron stores and haemochromatosis. Transfus Med 1993; 3: 21-28.
20. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH. Global prevalence of putative haemochromatosis mutations. J Med Genet (in press).
21. Tiwari JL, Terasaki PI. HLA and disease associations. New York: Springer, 1985.
22. Worwood M, Dorak MT, Nicklin S, Stone C, Pointon J, Darke C. The frequency of the haemochromatosis-associated genotype D6S265-1: D6S105-8 in blood donors. Br J Haematol 1996; 93: 833-40.
23. Smith AG, Francis JE. Genetic variation of iron-induced uroporphyria in mice. Biochem J 1993; 291: 29-35.
24. Bottomley SS. Porphyria cutanea tarda and hereditary hemochromatosis. Bol Istituto Dermatol S Gallicano 1986-1987; 8: 237-40.
25. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11 065 presumably healthy blood donors. N Engl J Med 1988; 318: 1355-62.