Juvenile hemochromatosis
Juvenile Hemochromatosis
Juvenile hemochromatosis (pronunciation: /ˌhēmōkrōˈməˌtōsəs/) is a rare genetic disorder characterized by the excessive accumulation of iron in the body. It is also known as Type 2 Hemochromatosis.
Etymology
The term "hemochromatosis" is derived from the Greek words "haima" (blood) and "chroma" (color), referring to the iron overload that gives a bronze color to the skin of affected individuals. The prefix "juvenile" is used to distinguish this form of the disease, which manifests in adolescence or early adulthood, from the more common adult-onset form.
Symptoms
Symptoms of juvenile hemochromatosis include fatigue, joint pain, abdominal pain, and loss of libido. If left untreated, the disease can lead to serious complications such as heart disease, liver disease, and diabetes.
Causes
Juvenile hemochromatosis is caused by mutations in the HFE2 gene. This gene provides instructions for making a protein that helps control the amount of iron absorbed from the diet. Mutations in the HFE2 gene disrupt this control mechanism, leading to iron overload.
Diagnosis
Diagnosis of juvenile hemochromatosis involves blood tests to measure iron levels, genetic testing to identify mutations in the HFE2 gene, and imaging studies to assess the extent of iron accumulation in the body.
Treatment
Treatment for juvenile hemochromatosis involves regular removal of blood (a procedure known as phlebotomy) to reduce iron levels. In severe cases, iron chelation therapy may be used to remove excess iron from the body.
Related Terms
External links
- Medical encyclopedia article on Juvenile hemochromatosis
- Wikipedia's article - Juvenile hemochromatosis
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