Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA

By E. Beutler, V. Felitti, J. Koziol, N. Ho, T. Gelbart. 2002

823 citations recorded by the source corpus.

Subfields: Genetics, Hematology, Nutrition and Dietetics

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. G. Papanikolaou
2. Kostas Pantopoulos

In Hematology

1. G. Papanikolaou
2. Kostas Pantopoulos

In Nutrition and Dietetics

1. G. Papanikolaou
2. Kostas Pantopoulos

Citations in the corpus

• Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases (2011, background): “In a large study correlating phenotypic and genotypic markers in a primary care population in California, a serum ferritin >250 lg/L in men and >200 lg/L in women was positive in 77% and 56%, respectively, of C282Y homozygotes.(12) In the HEIRS (HEmochromatosis and IRon Overload Screening) study tha”
• Hemochromatosis and iron-overload screening in a racially diverse population. (2005, neutral): “Journal New England Journal of Medicine, 352(17)”
• Iron metabolism and toxicity. (2005, background): “Interestingly, the clinical penetrance of the C282Y homozygous genotype appears to be much lower, indicating that homozygosity for HFE mutations is not by itself sufficient to cause HH (Beutler et al., 2002).”