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Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience
- Source :
- ResearcherID
- Publication Year :
- 2016
-
Abstract
- Articles free to read on publisher website Hereditary haemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism common in populations of north-west European ancestry. The term haemochromatosis was first used by von Recklinghausen (1889) to describe his post-mortem findings in patients who had died from ‘bronzed diabetes’. The condition was first suggested to be familial by Sheldon (1935), although it was as late as 1975 before the genetic nature of the condition was proven, when Simon et al (1975 ) demonstrated association with the HLA-A3 allele in the major histocompatibility complex (MHC) on chromosome 6...
- Subjects :
- medicine.medical_specialty
Hereditary haemochromatosis
Iron Overload
Human leukocyte antigen
Major histocompatibility complex
HLA Antigens
Epidemiology
medicine
Humans
Porphyria cutanea tarda
Genetic Testing
Allele
Hemochromatosis Protein
Hemochromatosis
Genetics
biology
business.industry
Histocompatibility Antigens Class I
Membrane Proteins
Hematology
medicine.disease
Europe
Population Surveillance
Hereditary hemochromatosis
Mutation
biology.protein
business
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- ResearcherID
- Accession number :
- edsair.doi.dedup.....b614f958b596d39e23eb41edd38480c9