Clinical utility and outcome of HFE-genotyping in the search for hereditary hemochromatosis

Clinica Chimica Acta

Volumn 331, Issue 1-2, 2003, Pages 61-67

  Hannuksela, Jokke ^a   Niemelä, Onni ^a,b   Leppilampi, Mari ^a   Parkkila, Anna Kaisa ^c   Koistinen, Pirjo ^a   Nieminen, Pentti ^a   Parkkila, Seppo ^a,d  

^a UNIVERSITY OF OULU   (Finland)

^b EP Central Hospital Laboratory   (Finland)

^c TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^d UNIVERSITY OF TAMPERE   (Finland)

Author keywords

Genetic testing; Hereditary hemochromatosis; HFE; Iron

Indexed keywords

FERRITIN; HFE PROTEIN; IRON;

ADULT; ARTICLE; BLOOD ANALYSIS; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC VALUE; FEMALE; FERRITIN BLOOD LEVEL; FINLAND; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IRON BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PATIENT REFERRAL; PRIORITY JOURNAL; PROTEIN DETERMINATION; PUBLIC HEALTH SERVICE; SYMPTOM;

EID: 0037403177     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(03)00087-1     Document Type: Article

References (23)

1. Parkkila S., Niemelä O., Britton R.S.et al. Molecular aspects of iron absorption and HFE expression. Gastroenterology. 121:2001;1489-1496.
2. Adams P., Brissot P., Powell L.W. EASL International Consensus Conference on Haemochromatosis. J. Hepatol. 33:2000;485-504.
3. Press R.D. Hereditary hemochromatosis: impact of molecular and iron-based testing on the diagnosis, treatment, and prevention of a common, chronic disease. Arch. Pathol. Lab. Med. 123:1999;1053-1059.
4. Feder J.N., Gnirke A., Thomas W.et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:1996;399-408.
5. Hanson E.H., Imperatore G., Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am. J. Epidemiol. 154:2001;193-206.
6. Olynyk J.K., Cullen D.J., Aquilia S., Rossi E., Summerville L., Powell L.W. A population-based study of the clinical expression of the hemochromatosis gene. N. Engl. J. Med. 341:1999;718-724.
7. Beutler E., Felitti V.J., Koziol J.A., Ho N.J., Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 359:2002;211-218.
8. McLaren C.E., McLachlan G.J., Halliday J.W.et al. Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis. Gastroenterology. 114:1998;543-549.
9. Moodie S.J., Ang L., Stenner J.M.et al. Testing for haemochromatosis in a liver clinic population: relationship between ethnic origin, HFE gene mutations, liver histology and serum iron markers. Eur. J. Gastroenterol. Hepatol. 14:2002;223-229.
10. Adams P.C., Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology. 114:1998;319-323.
11. Beutler E., Felitti V., Gelbart T., Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann. Intern. Med. 133:2000;329-337.
12. de Valk B., Witlox R.S., van der Schouw Y.T., Marx J.J. Biochemical expression of heterozygous hereditary hemochromatosis. Eur. J. Intern. Med. 11:2000;317-321.
13. Koziol J.A., Ho N.J., Felitti V.J., Beutler E. Reference centiles for serum ferritin and percentage of transferrin saturation, with application to mutations of the HFE gene. Clin. Chem. 47:2001;1804-1810.
14. Jeffrey G.P., Chakrabarti S., Hegele R.A., Adams P.C. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat. Genet. 22:1999;325-326.
15. Parkkila S., Niemelä O., Savolainen E.R., Koistinen P. HFE mutations do not account for transfusional iron overload in patients with acute myeloid leukemia. Transfusion. 41:2001;828-831.
16. Aguilar-Martinez P., Bismuth M., Picot M.C.et al. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut. 48:2001;836-842.
17. Gochee P.A., Powell L.W., Cullen D.J., Du Sart D., Rossi E., Olynyk J.K. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology. 122:2002;646-651.
18. Bacon B.R., Olynyk J.K., Brunt E.M., Britton R.S., Wolff R.K. HFE genotype in patients with hemochromatosis and other liver diseases. Ann. Intern. Med. 130:1999;953-962.
19. McCullen M.A., Crawford D.H., Hickman P.E. Screening for hemochromatosis. Clin. Chim. Acta. 315:2002;169-186.
20. Powell L.W., George D.K., McDonnell S.M., Kowdley K.V. Diagnosis of hemochromatosis. Ann. Intern. Med. 129:1998;925-931.
21. El-Serag H.B., Inadomi J.M., Kowdley K.V. Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis. Ann. Intern. Med. 132:2000;261-269.
22. Acton R.T., Barton J.C. HFE genotype frequencies in consecutive reference laboratory specimens: comparisons among referral sources and association with initial diagnosis. Genet. Test. 5:2001;299-306.
23. Brandhagen D.J., Fairbanks V.F., Baldus W. Recognition and management of hereditary hemochromatosis. Am. Fam. Phys. 65:2002;853-860.