Hémochromatose by change TFR2
The hémochromatose by change TFR2 as the hémochromatose by change HFE is a disorder of the absorption of iron with accumulation of this metal in the liver, the heart and the glands endocrines.
The signs of the disease are pains, an asthenia, arthralgies or a reduction in the libido but generally there exist only signs biologiques.
The age of beginning is often earlier than the hémochromatose by change HFE. The evolution is much slower and sometimes no complication appears even in the absence of treatment. The complications are the cirrhosis, of the articular demonstrations and the hypogonadism hypogonadotrope.
Other names
- standard Hémochromatose 3
Etiology
- Change of the Gene TFR2 located on the Chromosome 7 coding the transferrin receptor protein 2 .
Incidence & prevalence
Much rarer than the hémochromatose by change HFE.Description
Diagnosis
Treatment & Assumption of responsibility
The genetic Council
Mode of transmission
recessive autosomic TransmissionSources
- Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 604250 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005
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