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Hereditary hemochromatosis genes, inheritance patterns, and clinical features

Hereditary hemochromatosis genes, inheritance patterns, and clinical features
Gene Inheritance Clinical characteristics
HFE AR Classical hereditary hemochromatosis (HH) with low penetrance; clinical onset in adulthood

HJV (hemojuvelin)

or

HAMP (hepcidin)		 AR Juvenile hemochromatosis with complete penetrance and early age of iron overload (childhood or young adulthood), along with early onset of hypogonadism and cardiac complications. Liver disease is less prominent.
TFR2 (transferrin receptor 2) AR Rare condition described in case reports. Clinically similar to classical HH but with onset in young adults.
SLC40A1 (ferroportin) AD Variable dominant disorder:
  • Families with loss-of-function mutations have ferroportin disease, characterized by high ferritin levels, increased macrophage iron, reduced transferrin saturation, mild anemia, and minimal hepatic iron deposition.
  • Families with less common gain-of-function mutations have findings similar to classical HH.
Refer to UpToDate for details of clinical presentation, evaluation, and management. Other genetic conditions such as those associated with neurodegeneration with brain iron accumulation (NBIA) are also discussed in UpToDate.
HH: hereditary hemochromatosis; AR: autosomal recessive; AD: autosomal dominant.
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