Juvenile hemochromatosis

Juvenile hemochromatosis is a rare, severe form of hemochromatosis, a group of diseases characterized by excessive accumulation of iron in the body. It is also known as type 2 hemochromatosis or juvenile-onset hemochromatosis.

Symptoms

The symptoms of juvenile hemochromatosis usually appear in adolescence or early adulthood and include fatigue, weight loss, and joint pain. Other symptoms may include heart disease, diabetes, and hypogonadism, a condition in which the body produces little or no sex hormones.

Causes

Juvenile hemochromatosis is caused by mutations in the HFE2 gene. This gene provides instructions for making a protein that plays a crucial role in controlling the absorption, transport, and storage of iron in the body. Mutations in the HFE2 gene disrupt the normal regulation of iron balance, leading to excessive iron accumulation in tissues and organs.

Diagnosis

Diagnosis of juvenile hemochromatosis is based on clinical symptoms, family history, and laboratory tests that measure iron levels in the body. Genetic testing can confirm the diagnosis.

Treatment

Treatment for juvenile hemochromatosis involves removing excess iron from the body, a process known as phlebotomy. In severe cases, organ transplantation may be necessary.

See also

• Hemochromatosis
• Iron overload
• HFE2 gene

External links

• Juvenile Hemochromatosis at Genetics Home Reference
• Juvenile Hemochromatosis at GeneReviews

Juvenile hemochromatosis Resources
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