Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes

Annals of Hematology

Volumn 83, Issue 10, 2004, Pages 654-657

  Milman, Nils ^a,b   Pedersen, Palle ^c   Ovesen, Lars ^d   Melsen, Gitte V ^c   Fenger, Kirsten ^b  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c NAESTVED HOSPITAL   (Denmark)

^d Danish Heart Foundation   (Denmark)

Author keywords

Denmark; Genotypes; Hemochromatosis; Mutations; Prevalence; Scandinavia

Indexed keywords

ASPARTIC ACID; CYSTEINE; HFE PROTEIN; HISTIDINE; TYROSINE;

ADULT; ALLELE; ARTICLE; BLOOD SAMPLING; COHORT ANALYSIS; CONFIDENCE INTERVAL; CONTROLLED STUDY; DENMARK; ETHNIC GROUP; FAROE ISLANDS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ICELAND; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; NORWAY; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; RANDOMIZATION; REGISTER; SCANDINAVIA; STATISTICAL SIGNIFICANCE; SWEDEN;

ASPARTIC ACID; CONFIDENCE INTERVALS; CYSTEINE; DENMARK; FEMALE; GENE FREQUENCY; GENOTYPE; HEMOCHROMATOSIS; HISTIDINE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; TYROSINE;

EID: 3042832786     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-004-0874-7     Document Type: Article

References (31)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A et al (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-408
2. Worwood M (1998) Haemochromatosis. Clin Lab Haematol 20:65-75
3. Milman N (2000) Inheritance of hemochromatosis: family studies. In: Barton JC, Edwards CQ (eds) Hemochromatosis: genetics, pathophysiology, diagnosis and treatment. Cambridge University, Cambridge, UK 15-41
4. Jørgensen T (1987) Prevalence of gallstones in a Danish population. Am J Epidemiol 126:912-921
5. Rudbeck L, Dissing J (1998) Rapid, simple alkaline extraction of human genomic DNA from whole blood, buccal epithelial cells, semen and forensic stains for PCR. Biotechniques 25:588-590
6. Milman N, Pedersen P (2003) Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. Clin Genet 64:36-47
7. Milman N, Koefoed P, Pedersen P, Nielsen FC, Eiberg H (2003) Frequency of the HFE C282Y and the H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods. Eur J Haematol 71:403-407
8. Wiggers P, Dalhøj J, Kiær H, Ring-Larsen H, Petersen PH, Blaabjerg O et al (1991) Screening for haemochromatosis: prevalence among Danish blood donors. J Intern Med 230:265-270
9. Merryweather-Clarke AT, Simonsen H, Shearman JD, Pointon JJ, Norgaard-Pedersen B, Robson KJ (1999) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. Hum Mutat 13:154-159
10. Steffensen R, Varming K, Jersild C (1998) Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers. Tissue Antigens 52:230-235
11. Simonsen K, Dissing J, Rudbeck L, Schwartz M (1999) Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: detection of a new polymorphic mutation. Ann Hum Genet 63:193-197
12. Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, Larsen LE, Appleyard M, Frandsen M et al (2001) Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet 358:1405-1409
13. Distante S, Berg JP, Lande K, Haug E, Bell H (2000) HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis. Gut 47:575-579
14. Undlien DE, Bell H, Heier HE, Akselsen HE, Thorsby E (1998) Genetic diagnostic test for haemochromatosis. Tidsskr Nor Laegeforen 118:238-240
15. Beckman LE, Sjoberg K, Eriksson S, Beckman L (2001) Haemochromatosis gene mutations in Finns, Swedes and Swedish Saamis. Hum Hered 52:110-112
16. Tuomainen TP, Kontula K, Nyyssonen K, Lakka TA, Helio T, Salonen JT (1999) Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation: a prospective cohort study in men in eastern Finland. Circulation 100:1274-1279
17. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ (1997) Global prevalence of putative haemochromatosis mutations. J Med Genet 34:275-278
18. Cardoso EM, Stal P, Hagen K, Cabeda JM, Esin S, de Sousa M et al (1998) HFE mutations in patients with hereditary haemochromatosis in Sweden. J Intern Med 243:203-208
19. Milman N, á Steig T, Koefoed P, Pedersen P, Fenger K, Nielsen FC (2004) Frequency of the haemochromatosis HFE mutations C282Y, H63D and S65C in blood donors in the Faroe Islands. Ann Hematol (in press)
20. Murphy S, Curran MD, McDougall N, Callender ME, O'Brien CJ, Middleton D (1998) High incidence of the Cys282Tyr mutation in the HFE gene in the Irish population - implications for haemochromatosis. Tissue Antigens 52:484-488
21. Byrnes V, Ryan E, Barrett S, Kenny P, Mayne P, Crowe J (2001) Genetic hemochromatosis, a Celtic disease: is it now time for population screening? Genet Test 5:127-130
22. Ryan E, O'Keane C, Crowe J (1998) Hemochromatosis in Ireland and HFE. Blood Cells Mol Dis 24:428-432
23. Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ (2000) Geography of HFE C282Y and H63D mutations. Genet Test 4:183-198
24. Jones DC, Young NT, Pigott C, Fuggle SV, Barnardo MC, Marshall SE et al (2002) Comprehensive hereditary hemochromatosis genotyping. Tissue Antigens 60:481-488
25. Mullighan CG, Bunce M, Fanning GC, Marshall SE, Welsh KI (1998) A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population. Gut 42:566-569
26. Miedzybrodzka Z, Loughlin S, Baty D, Terron A, Kelly K, Dean J et al (1999) Haemochromatosis mutations in North-East Scotland. Br J Haematol 106:385-387
27. Grove J, Daly AK, Burt AD, Guzail M, James OF, Bassendine MF et al (1998) Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut 43:262-266
28. Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH (1997) Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349:321-323
29. Willis G, Jennings BA, Goodman E, Fellows IW, Wimperis JZ (1997) A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England. Blood Cells Mol Dis 23:288-291
30. Jackson HA, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD et al (2001) HFE mutations, iron deficiency and overload in 10,500 blood donors. Br J Haematol 114:474-484
31. Merryweather-Clarke AT, Worwood M, Parkinson L, Mattock C, Pointon JJ, Shearman JD et al (1998) The effect of HFE mutations on serum ferritin and transterrin saturation in the Jersey population. Br J Haematol 101:369-373