Hemochromatosis type 4

Hemochromatosis type 4, also known as ferroportin disease, is a type of hemochromatosis - a group of diseases characterized by excessive iron accumulation in the body. This condition is caused by mutations in the SLC40A1 gene and is inherited in an autosomal dominant manner.

Symptoms

The symptoms of hemochromatosis type 4 typically begin in adulthood and can vary greatly among affected individuals. Common symptoms include fatigue, arthritis, and liver disease. Some people may also develop diabetes due to damage to the pancreas.

Causes

Hemochromatosis type 4 is caused by mutations in the SLC40A1 gene. This gene provides instructions for making a protein called ferroportin, which is involved in the transport of iron from cells to the bloodstream. Mutations in the SLC40A1 gene disrupt the function of ferroportin, leading to an accumulation of iron in the body's tissues and organs.

Diagnosis

The diagnosis of hemochromatosis type 4 is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood tests to measure iron levels, genetic testing to identify mutations in the SLC40A1 gene, and liver biopsy to assess iron accumulation in the liver.

Treatment

The treatment of hemochromatosis type 4 is aimed at reducing iron levels in the body. This is often achieved through a procedure called phlebotomy, in which blood is removed from the body to decrease iron levels. In some cases, medication may be used to help remove excess iron from the body.

Prognosis

The prognosis for individuals with hemochromatosis type 4 varies. With early diagnosis and treatment, most individuals can lead a normal life. However, if left untreated, the condition can lead to serious complications such as liver disease, heart disease, and diabetes.

See also

• Hemochromatosis
• Iron overload
• SLC40A1
• Autosomal dominant

Classification	OMIM: 606069

Hemochromatosis type 4 Resources
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