Juvenile hemochromatosis (Type 2) is a rare form of hemochromatosis associated with mutations in 2 genes.
Percent of Cases
HAMP, HEPC (HFE2B)
HJV, HFE2 (HFE2A)
Inheritance: autosomal recessive with disease only in homozygotes
Onset: childhood, adolescence or early adulthood (earlier than classic hemochromatosis)
(1) unexplained fatigue
(2) arthralgias or arthropathy
(3) diabetes mellitus
(5) cardiac disease or cardiomyopathy
(6) hypogonadism (hypogonadotropic)
(7) skin hyperpigmentation
(1) The serum ferritin is elevated, sometimes markedly.
(2) The serum transferrin saturation is > 45% (may be 100%).
(3) Urine concentrations of hepcidin are reduced to absent.
(4) Variable evidence of diabetes mellitus.
(5) Variable evidence of liver disease.
(6) Elevated iron in a liver biopsy.
Treatment includes repeated phlebotomies to reduce iron overload and avoidance of iron intake.
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