Prevalence of the H63D and C282Y mutations in the HFE gene in 3,015 blood donors from southwestern Germany

Transfusion Medicine and Hemotherapy

Volumn 30, Issue 2, 2003, Pages 66-70

  Konig D ^a   Mattler, S ^a   Eichler, H ^a   Kluter H ^a   Bugert, P ^a,b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b Hessen gGmbH   (Germany)

Author keywords

Hereditary haemochromatosis; Iron overload; PCR SSP

Indexed keywords

HFE PROTEIN;

ADULT; ARTICLE; BLOOD DONOR; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE; GERMANY; HEMOCHROMATOSIS; HEMOCHROMATOSIS GENE; HUMAN; MALE; MUTATION RATE; POLYMERASE CHAIN REACTION; PREVALENCE; SEX DIFFERENCE;

EID: 10744229531     PISSN: 16603796     EISSN: None     Source Type: Journal    
DOI: 10.1159/000070546     Document Type: Article

References (15)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 13:399-408.
2. Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, Grummer-Strawn LM, Sampson EJ, Khoury MJ, Gallagher ML: Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 2001;285:216-2222.
3. Rossi E, Bulsara MK, Olynyk JK, Cullen DJ, Summerville L, Powell LW: Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem 2001;47:202-208.
4. Åsberg A, Hveem K, Thorstensen K, Ellekjær E, Kannelønning K, Fjøsne U, Halvorsen T, Smethurst HBG, Sagen E, Bjerve KS: Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36,1108-1115.
5. Lyon E, Frank EL: Hereditary hemochromatosis since discovery of the HFE gene. Clin Chem 2001; 47:1147-1156.
6. Niederau C, Strohmeyer G: Strategies for early diagnosis of haemochromatosis. Eur J Gastroenterol Hepatol 2002;14:217-221.
7. Njajou OT, Hollander M, Koudstaal PJ, Hofman A, Witteman JCM, Breteler MMB, van Duijn CM: Mutations in the hemochromatosis gene (HFE) and stroke. Stroke 2002;33:2363-2366.
8. Tan L, Khan MK, Hawk JC: Use of blood therapeutically drawn from hemochromatosis patients. Transfusion 1999;39:1018-1026.
9. McDonnel SM, Grindon AJ, Preston BL, Barton JC, Edwards CQ, Adams PC: A survey of phlebotomy among persons with hemochromatosis. Transfusion 1999;39:651-656.
10. Ryan E, Byrnes V, Coughlan B, Flanagan AM, Barrett S, O'Keane JC, Crowe J: Underdiagnosis of hereditary hemochromatosis: Lack of presentation or penetration. Gut 2002;51:108-112.
11. Guttridge MG, Thompson J, Worwood M, Darke C: Rapid detection of genetic mutations associated with haemochromatosis. Vox Sang 1998;75:253-256.
12. Jackson HA, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD, Napier JA, Worwood M: HFE mutations, iron deficiency and overload in 10,500 blood donors. Brit J Haematol 2001;114: 474-484.
13. Gathof BS, Holten D, Engelmann M: Hämochromatose Screening von Blutspendern - Prävention der Erkrankung und Steigerung der Blutspenden? Infus Ther Transfus Med 2001;28(suppl 1):61.
14. Skowron F, Berard F, Grezard P, Wolf F, Morel Y, Perrot H: Role of the hemochromatosis gene. Ann Dermatol Venereol 2001;128:600-604.
15. Gochee PA, Powell LW, Cullen DJ, Du Sart D, Rossi E, Olynyk JK: A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterol 2002;122:646-651.