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juvenile hemochromatosis (hemochromatosis type 2B)
Pathology:
1) intestinal iron hyperabsorption
2) macrophages do not load iron
3) severe iron overload
4) hypogonadotrophic hypogonadism
5) hepatic fibrosis or cirrhosis
6) cardiomyopathy
Genetics:
1) autosomal recessive
2) associated with defects in hepcidin gene
Clinical manifestations:
- early-onset, occurs typically before age of 30
General
hemochromatosis
Database Correlations
OMIM 602390
References
OMIM :accession 602390