Hemochromatosis type 4

Hemochromatosis type 4 (pronunciation: hee-moh-kroh-muh-TOH-sis type four), also known as Juvenile Hemochromatosis, is a rare genetic disorder characterized by the excessive absorption of dietary iron, leading to its accumulation in the body's organs, particularly the heart and the liver. This condition is caused by mutations in the SLC40A1 gene.

Etymology

The term "Hemochromatosis" is derived from the Greek words "haima" (blood) and "chroma" (color), referring to the iron overload that gives a bronze or gray color to the skin of affected individuals. The term "type 4" refers to the specific genetic mutation causing this form of the disease.

Symptoms

The symptoms of Hemochromatosis type 4 typically appear in early adulthood and may include fatigue, joint pain, abdominal pain, loss of libido, and heart problems. In severe cases, it can lead to life-threatening conditions such as cirrhosis, heart disease, and diabetes.

Diagnosis

Diagnosis of Hemochromatosis type 4 is typically made through blood tests that measure iron levels in the body, genetic testing to identify mutations in the SLC40A1 gene, and liver biopsy to assess iron accumulation.

Treatment

Treatment for Hemochromatosis type 4 primarily involves reducing iron levels in the body through a process called phlebotomy, in which blood is regularly removed from the body. Dietary changes may also be recommended to limit iron intake.

Related Terms

• Iron overload
• Genetic disorder
• SLC40A1
• Phlebotomy
• Cirrhosis
• Heart disease
• Diabetes

External links

• Medical encyclopedia article on Hemochromatosis type 4
• Wikipedia's article - Hemochromatosis type 4

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