Which are the causes of Juvenile Hemochromatosis?

Juvenile Hemochromatosis: Causes and Risk Factors

Juvenile Hemochromatosis (JH) is a rare genetic disorder characterized by excessive iron accumulation in the body. Unlike the more common form of hemochromatosis, which typically manifests in adulthood, JH affects individuals during their teenage years or even earlier. This condition can lead to severe complications if left untreated. Understanding the causes and risk factors associated with JH is crucial for early detection and management.

Genetic Mutations:

JH is primarily caused by mutations in the genes responsible for iron metabolism. The most common genetic mutation associated with JH is known as HJV (Hemojuvelin) gene mutation. This mutation disrupts the normal functioning of hemojuvelin, a protein involved in regulating iron absorption in the body. As a result, iron accumulates in various organs and tissues, leading to the symptoms of JH.

Autosomal Recessive Inheritance:

JH follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. If both parents carry a single copy of the mutated gene, they are considered carriers and have a 25% chance of having an affected child with each pregnancy.

Family History:

Having a family history of JH or a known genetic mutation associated with the disorder increases the risk of developing JH. If a sibling or parent has been diagnosed with JH or is a known carrier of the mutated gene, it is important to undergo genetic testing to assess the risk.

Other Genetic Mutations:

In rare cases, JH can be caused by mutations in other genes involved in iron metabolism, such as HAMP (Hepcidin Antimicrobial Peptide) or HFE (High Fe) genes. These mutations disrupt the normal regulation of iron absorption and contribute to the excessive iron accumulation seen in JH.

Conclusion:

Juvenile Hemochromatosis is primarily caused by genetic mutations that affect iron metabolism. The most common mutation associated with JH is the HJV gene mutation. Understanding the genetic basis of JH and identifying individuals at risk through genetic testing can aid in early diagnosis and intervention. If you suspect you or a loved one may have JH or are at risk, it is important to consult with a healthcare professional for proper evaluation and management.