Underdiagnosis of hereditary haemochromatosis: reflects lack of clinical not biochemical penetrance
- Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration? Ryan, E.; Byrnes, V.; Coughlan, B.; Flanagan, A.-M.; Barrett, S.; O'Keane, J.C.; Crowe, J. // Gut;Jul2002, Vol. 51 Issue 1, p108
Background: The majority of hereditary haemochromatosis (HH) patients are homozygous for the C282Y mutation in the HFE gene. We have demonstrated o homozygote frequency of 1 in 83 for the C282Y mutation in a retrospective analysis of Irish neonates. However, a fully developed phenotype is not...
- A disorderly surprise. Kuntz, Rayne // Asian Pacific Post;5/21/2009, p10
A personal narrative is presented which explores the author's experience of dealing with hemochromatosis, the number one genetic disorder in Canada.
- Hemochromatosis in Two Young Sisters. Felts, John H.; Nelson, John R.; Herndon, C. Nash; Spurr, Charles L. // Annals of Internal Medicine;Jul67, Vol. 67 Issue 1, p117
Highlights the case of two young sisters with hemochromatosis which showed a classic autosomal recessive form of the disease. Medical history of the patients and their families; Sequence of events leading to the diagnosis of hemochromatosis; Hypothesis on the genetic types of hemochromatosis.
- Hypogonadism in Hemochromatosis: Reversal with Iron Depletion. Kelly, Thomas M.; Edwards, Corwin Q.; Meikle, A. Wayne; Kushner, James P. // Annals of Internal Medicine;Nov84, Vol. 101 Issue 5, p629
Presents information on a study which investigated the occurrence of hypogonadism in persons with hereditary hemochromatosis. Methods; Results; Discussion.
- Clinical penetrance of C282Y homozygous HFE hemochromatosis in a western Romanian population. Neghina, Adriana M.; Anghel, Andrei; Sporea, Ioan; Popescu, Alina // Journal of Gastrointestinal & Liver Diseases;Mar2011, Vol. 20 Issue 1, p100
The article presents a case study which shows that homozygosity for C282Y mutation (C282Y/C282Y) in the human hemochromatosis protein (HFE) gene is responsible for the majority of cases of typical phenotypic hereditary hemochromatosis (HH) in Romania. It examines the relationship between HFE...
- Hereditary Hemochromatosis: Effect of Excessive Alcohol Consumption on Disease Expression in Patients Homozygous for the C282Y Mutation. C. Férec; V. Scotet; M-C. Mérour; A-Y. Mercier; B. Chanu; T. Le Faou; O. Raguénes; G. Le Gac; C. Mura; J-B. Nousbaum // American Journal of Epidemiology;7/15/2003, Vol. 158 Issue 2, p129
Hereditary hemochromatosis is a common inherited disorder characterized by iron overload. A single mutation (C282Y) in the HFE gene is present in 80-95% of cases in populations of northern European extraction. The disorder presents a large phenotypic heterogeneity, and its expression can be...
- Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation. Wigg, A.J.; Harley, H.; Casey, G. // Gut;Mar2003, Vol. 52 Issue 3, p433
We observed the development of phenotypic hereditary haemochromatosis in a non-hereditary haemochromatosis liver transplant recipient, following transplantation with a liver from a C282Y heterozygous donor. No cause for secondary iron overload was identified. Subsequent sequencing of the HFE...
- No escaping the genetics of hemochromatosis. Friedrich, Christopher; R.M.D. // Cortlandt Forum;9/25/95, Vol. 8 Issue 9, p126
Focuses on the genetics of hemochromatosis. Genotype of affected patients; Inheritance of the disease.
- Haemochromatosis: a genetic disorder easily missed by GPs. Wynne-Jones, Melanie // Pulse;3/19/2005, Vol. 65 Issue 11, p68
Presents a case report of a woman patient with hemochromatosis, a genetic disorder. Complaint of the patient of aching joints; Role of a single defective gene in passing the disease; Symptoms associated with the disease; Recommended tests to be done on the patient. INSET: Key points.