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HEMOCHROMATOSIS, TYPE 3

HEMOCHROMATOSIS, TYPE 3
HFE3
604250
OMIM = Online Mendelian Inheritance of Men
225123
Transferrin receptor protein 2
7q22.1
E83.1
rare
autoaomal recessive
mutation in the transferrin receptor-2 gene
Laboratory findings    Ferritin inc (serum)
    Iron inc (serum)
Symptoms    arthralgia
    cardiomyopathy
    cirrhosis or fibrosis of liver
    hyperpigmentation
    hypogonadism
    onset, adolescent
    pain, abdominal