Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy

Abstrakt

Non-HFE hereditary haemochromatosis (juvenile haemochromatosis, JH) represents a group of rare genetic diseases causing iron overload, liver injury, cardiomyopathy and endocrine abnormalities. Recessive forms of JH are associated with mutations in HAMP and HJV.

Here, we describe a unique genetic basis of JH in a patient from a non-consanguineous family.

Klíčová slova

• juvenile hemochromatosis
• iron overload