Underdiagnosis of hereditary haemochromatosis: Lack of presentation or penetration?

Gut

Volumn 51, Issue 1, 2002, Pages 108-112

  Ryan, E ^a   Byrnes, V ^a   Coughlan, B ^a   Flanagan, A M ^a   Barrett, S ^a   O'Keane, J C ^a   Crowe, J ^a  

^a MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

HFE PROTEIN; IRON; TRANSFERRIN;

ADULT; AGED; ARTHROPATHY; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; FAMILY; FATIGUE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; IMPOTENCE; IRON OVERLOAD; IRON STORAGE; MALE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

ADULT; AGED; FATIGUE; FEMALE; FERRITINS; GENETIC SCREENING; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HOMOZYGOTE; HUMANS; JOINT DISEASES; LIVER; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PENETRANCE; STATISTICS, NONPARAMETRIC; TRANSFERRIN;

EID: 0036293879     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.51.1.108     Document Type: Article

References (25)

1. Screening for hemochromatosis
2. A novel MHC-class 1 like gene is mutated in patients with hereditary hemochromatosis
3. Hemochromatosis and HLA-H
4. Hemochromatosis and HLA-H
5. A simple test identifies 90% of UK patients with hemochromatosis
6. H63D is a haemochromatosis associated allele
7. Correlation between genotype and phenotype in hereditary hemochromatosis: Analysis of 61 cases
8. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
9. A novel mutation of HFE explains the classical phenotype of genetic haemochromatosis in a C282Y heterozygote
10. Two novel missense of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
11. EASL International Consensus Conference on Haemochromatosis
12. Of metals, mice, and men: What animal models can teach us about body iron loading
13. Genes that modify the hemochromatosis phenotype in animals
14. Hemochromatosis in Ireland and HFE
15. Neonatal screening for the HFE mutations in the Irish population
16. Diagnosis of hemochromatosis
17. Non-expressing homozygotes for C282Y hemochromatosis: Minority or majority of cases?
18. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
19. Hepatic pathology in relatives of patients with hemochromatosis
20. Why there is discordance in reported decision thresholds for transferring saturation when screening for hereditary hemochromatosis
21. Distribution of transferrin saturation in an Australian population: Relevance to the early diagnosis of hemochromatosis
22. The relationship between iron overload, clinical symptomatology and age in 410 patients with genetic hemochromatosis
23. Clinical features of genetic hemochromatosis in women compared to men
24. Disease related conditions in relatives of patients with hemochromatosis
25. Hemochromatosis: Genetics helps to define a multifactorial disease