Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men

Annals of Hematology

Volumn 87, Issue 9, 2008, Pages 735-740

  Pedersen, Palle ^a   Melsen, Gitte Vedel ^a   Milman, Nils ^a  

^a NAESTVED HOSPITAL   (Denmark)

Author keywords

Denmark; Genotypes; Hemochromatosis; Mutations; Prevalence; Scandinavia

Indexed keywords

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

ADULT; ARTICLE; BLOOD SAMPLING; COHORT ANALYSIS; CONTROLLED STUDY; DENMARK; FAROE ISLANDS; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; ICELAND; MAJOR CLINICAL STUDY; MALE; NORWAY; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SALIVA ANALYSIS; SCANDINAVIA; SWEDEN;

AMINO ACID SUBSTITUTION; BLOOD DONORS; DENMARK; ETHNIC GROUPS; EUROPE; GENE FREQUENCY; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS);

EID: 48649106287     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-008-0506-8     Document Type: Article

References (42)

1. Barton JC (2000) A brief history of hemochromatosis. In: Barton JC, Edwards CQ (eds) Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment. Cambridge University Press, Cambridge, UK, pp 3-7
2. Milman N (1991) Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. Dan Med Bull 38:385-393 Medline
3. 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 Medline. DOI 10.1038/ ng0896-399
4. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW et al (1996) Haemochromatosis and HLA-H. Nat Genet 14:249-251 Medline. DOI 10.1038/ng1196-249
5. Koefoed P, Dalhoff K, Dissing J, Kramer I, Milman N, Pedersen P et al (2002) HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping. Scand J Clin Lab Invest 62:527-535 Medline. DOI 10.1080/ 003655102321004549
6. 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 Medline
7. Milman N, Pedersen P, Ovesen L, Melsen GV, Fenger K (2004) Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes. Ann Hematol 83:654-657 Medline. DOI 10.1007/ s00277-004-0874-7
8. Milman N, Pedersen P, Steig T, Melsen GV (2003) Frequencies of the hereditary hemochromatosis allele in different populations. Comparison of previous phenotypic methods and novel genotypic methods. Int J Hematol 77:48-54 Medline
9. Milman N (2000) Inheritance of hemochromatosis: Family studies. In: Barton JC, Edwards CQ (eds) Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment. Cambridge University Press, Cambridge, UK, pp 15-41
10. Worwood M (1998) Haemochromatosis. Clin Lab Haematol 20:65-75 Medline. DOI 10.1046/j.1365-2257.1998.00028.x
11. 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 Medline
12. Hoppe BL, Conti-Tronconi BM, Horton RM (1992) Gel-loading dyes compatible with PCR. Biotechniques 12:679-680 Medline
13. Thorstensen K, Asberg A, Kvitland M, Svaasand E, Hveem K, Bjerve KS (2000) Detection of an unusual combination of mutations in the HFE gene for hemochromatosis. Genet Test 4:371-376 Medline. DOI 10.1089/ 109065700750065117
14. Lucotte G, Champenois T, Semonin O (2001) A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D. Blood Cells Mol Dis 27:892-893 Medline. DOI 10.1006/bcmd.2001.0451
15. Best LG, Harris PE, Spriggs EL (2001) Hemochromatosis mutations C282Y and H63D in 'cis' phase. Clin Genet 60:68-72 Medline. DOI 10.1034/ j.1399-0004.2001.600111.x
16. 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 Medline. DOI 10.1034/ j.1399-0004.2003.00083.x
17. Milman N, Koefoed P, Pedersen P, Nielsen FC, Eiberg H (2003) Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods. Eur J Haematol 71:403-407 Medline. DOI 10.1046/j.0902-4441.2003.00156.x
18. 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 Medline. DOI 10.1002/ (SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E
19. 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 Medline
20. 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 Medline. DOI 10.1046/j.1469-1809.1999.6330193.x
21. 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 Medline. DOI 10.1016/S0140-6736(01)06526-6
22. Bathum L, Christiansen L, Nybo H, Ranberg KA, Gaist D, Jeune B et al (2001) Association of mutations in the hemochromatosis gene with shorter life expectancy. Arch Intern Med 161:2441-2444 Medline. DOI 10.1001/ archinte.161.20.2441
23. 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 Medline. DOI 10.1136/gut.47.4.575
24. Undlien DE, Bell H, Heier HE, Akselsen HE, Thorsby E (1998) Genetic diagnostic test for hemochromatosis. Tidsskr Nor Laegeforen 118:238-240 Medline
25. Beckman LE, Sjoberg K, Eriksson S, Beckman L (2001) Haemochromatosis gene mutations in Finns, Swedes and Swedish Saamis. Hum Hered 52:110-112 Medline. DOI 10.1159/000053362
26. 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 Medline
27. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ (1997) Global prevalence of putative haemochromatosis mutations. J Med Genet 34:275-278 Medline
28. Milman N, Pedersen P, Steig T, Byg KE, Graudal N, Fenger K (2001) Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol 80:737-744 Medline. DOI 10.1007/ s002770100371
29. Milman N, Clausen J, Byg KE (1998) Iron status in 268 Danish women aged 18-30 years: Influence of menstruation, contraceptive method, and iron supplementation. Ann Hematol 77:13-19 Medline. DOI 10.1007/s002770050405
30. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T (2002) Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359:211-218 Medline. DOI 10.1016/S0140-6736(02)07447-0
31. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW (1999) A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 341:718-724 Medline. DOI 10.1056/ NEJM199909023411002
32. McDonnell SM, Hover A, Gloe D, Ou CY, Cogswell ME, Grummer-Strawn L (1999) Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri. Am J Med 107:30-37 Medline. DOI 10.1016/ S0002-9343(99)00163-1
33. Phatak PD, Ryan DH, Cappuccio J, Oakes D, Braggins C, Provenzano K et al (2002) Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis 29:41-47 Medline. DOI 10.1006/ bcmd.2002.0536
34. Burt MJ, George PM, Upton JD, Collett JA, Frampton CM, Chapman TM et al (1998) The significance of haemochromatosis gene mutations in the general population: Implications for screening. Gut 43:830-836 Medline
35. Milman N, Graudal N, Nielsen LS, Mathiassen B, Tauris P, Lund B et al (1990) Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands. Hum Genet 85:228-232 Medline. DOI 10.1007/BF00193201
36. Milman N, Steig T, Koefoed P, Pedersen P, Nielsen FC (2005) Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faeroe Islands. Ann Hematol 84:146-149 Medline. DOI 10.1007/ s00277-004-0865-8
37. Distante S, Berg JP, Lande K, Haug E, Bell H (1999) High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol 34:529-534 Medline. DOI 10.1080/003655299750026290
38. Holmstrom P, Marmur J, Eggertsen G, Gafvels M, Stal P (2002) Mild iron overload in patients carrying the HFE S65C gene mutation: A retrospective study in patients with suspected iron overload and healthy controls. Gut 51:723-730 Medline. DOI 10.1136/gut.51.5.723
39. 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 Medline. DOI 10.1046/j.1365-2796.1998.00270.x
40. Hannuksela J, Leppilampi M, Peuhkurinen K, Karkkainen S, Saastamoinen E, Helio T et al (2005) Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy. Eur J Heart Fail 7:103-108 Medline. DOI 10.1016/j.ejheart.2004.03.007
41. Halme L, Helio T, Makinen J, Hockerstedt K, Farkkila M, Piippo K et al (2001) HFE haemochromatosis gene mutations in liver transplant patients. Scand J Gastroenterol 36:881-885 Medline
42. Syrjakoski K, Fredriksson H, Ikonen T, Kuukasjarvi T, Autio V, Matikainen MP et al (2006) Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients. Int J Cancer 118:518-520 Medline. DOI 10.1002/ijc.21331