Hemochromatosis type 4
(Redirected from Ferroportin disease)
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
| Classification |
|
|---|---|
| External resources |
|
| Hemochromatosis type 4 Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
