A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation

Gastroenterology

Volumn 122, Issue 3, 2002, Pages 646-651

  Gochee, Peter A ^a   Powell, Lawrie W ^a   Cullen, Digby J ^b,c   Du Sart, Desirée ^d   Rossi, Enrico ^e   Olynyk, John K ^b  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b FREMANTLE HOSPITAL   (Australia)

^c Busselton Pop Med Res Foundation   (Australia)

^d MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^e PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON; TRANSFERRIN;

ADULT; AGED; ARTICLE; AUSTRALIA; FEMALE; FERRITIN BLOOD LEVEL; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

EID: 0036177909     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0016-5085(02)80116-0     Document Type: Article

References (29)

1. Molecular medicine and hemochromatosis: At the crossroads
2. Haemochromatosis in the new millennium
3. Hemochromatosis: Diagnosis and management
4. Hereditary haemochromatosis: Diagnosis and management in the gene era
5. Haemochromatosis and the liver
6. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
7. Global prevalence of putative haemochromatosis mutations
8. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
9. EASL International Consensus Conference on Haemochromatosis
10. Hereditary hemochromatosis: Gene discovery and its implications for population-based screening
11. Population screening for haemochromatosis
12. Population screening in hereditary hemochromatosis
13. Screening for hereditary hemochromatosis: Are DNA-based tests the answer?
14. A population-based study of the clinical expression of the hemochromatosis gene
15. Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis
16. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri
17. Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins
18. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
19. Genetic irony beyond haemochromatosis: Clinical effects of HLA-H mutations
20. Haemochromatosis, HFE and genetic complexity
21. Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives
22. Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
23. The principles and practice of screening for disease
24. Population screening for hemochromatosis: A comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors
25. Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis
26. Screening for hemochromatosis in primary care settings
27. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
28. Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotyping to phenotyping
29. Genetic discrimination and screening for hemochromatosis