juvenile hemochromatosis (hemochromatosis type 2B)

Pathology

• intestinal iron hyperabsorption
• macrophages do not load iron
• severe iron overload
• hypogonadotrophic hypogonadism
• hepatic fibrosis or cirrhosis
• cardiomyopathy

Genetics

• autosomal recessive
• associated with defects in hepcidin gene

Clinical manifestations

• early-onset, occurs typically before age of 30

More general terms

• hemochromatosis

Database

• OMIM: https://mirror.omim.org/entry/602390