Genetic hemochromatosis, a celtic disease: Is it now time for population screening?

Genetic Testing

Volumn 5, Issue 2, 2001, Pages 127-130

  Byrnes, V ^a   Ryan, E ^a   Barrett, S ^a   Kenny, P ^a   Crowe, J ^a   Mayne, P ^b  

^a MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

^b Children's Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYSTEINE; DNA; GENE PRODUCT; HFE PROTEIN; HISTIDINE; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DISEASE MARKER; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IRELAND; MAJOR CLINICAL STUDY; MASS SCREENING; NEWBORN; NEWBORN SCREENING; PREVALENCE;

ETHNIC GROUPS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; INFANT, NEWBORN; IRELAND; MEMBRANE PROTEINS; MUTATION, MISSENSE; NEONATAL SCREENING; PREVALENCE;

EID: 0034863686     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065701753145583     Document Type: Article

References (25)

1. Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotype to phenotype
2. Screening blood donors for hereditary hemochromatosis: Decision analysis model based on a 30-year database
3. EASL International Consensus Conference on Haemochromatosis
4. HFE genotypes in patients with haemochromatosis and other liver diseases
5. Screening for hemochromatosis: A cost effectiveness study based on 12, 258 patients
6. Hemochromatosis: The genetic disorder of the twenty-first century
7. Long term results of venesection therapy in idiopathic hemochromatosis
8. Mutations in the MHC class I like candidate gene for hemochromatosis in French patients
9. The underdiagnosis of hereditary haemochromatosis: Lack of penetration or presentation, expectations based on a study of relatives of symptomatic probands
10. Mutation analysis of the HLA-A gene in Italian hemochromatosis patients
11. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
12. HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis
13. Homozygosity for hemochromatosis: Clinical manifestations
14. A novel MHC class I like gene is mutated in patients with hereditary hemochromatosis
15. Non-invasive prediction of fibrosis in C282Y homozygous hemochromatosis
16. Haemochromatosis and HLA-H
17. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
18. Prevalence of hemochromatosis amongst asympomatic Australians
19. Global prevalence of putative haemochromatosis mutations
20. Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron overloaded patients and relatives
21. Long-term survival in patients with hereditary hemochromatosis
22. A population-based study on the clinical expression of the hemochromatosis gene
23. Cost-effectiveness of screening for hereditary hemochromatosis
24. Hemochromatosis in Ireland and HFE
25. Screening for hemochromatosis: Prevalence among Danish blood donors