Haemochromatosis type 3
Haemochromatosis type 3 (pronunciation: hee-moh-kroh-muh-TOH-sis type three) is a rare genetic disorder characterized by excessive iron absorption in the body.
Etymology
The term "Haemochromatosis" is derived from the Greek words "haima" meaning blood and "chroma" meaning color. The "type 3" designation refers to the specific gene mutation (TFR2) associated with this form of the disease.
Overview
Haemochromatosis is a group of inherited disorders characterized by excessive iron absorption and accumulation in various organs of the body, leading to organ damage. Haemochromatosis type 3 is a subtype of this disorder, caused by mutations in the TFR2 gene. This gene is responsible for regulating iron absorption in the body. When mutated, it leads to uncontrolled iron absorption, resulting in iron overload.
Symptoms
The symptoms of Haemochromatosis type 3 are similar to those of other forms of Haemochromatosis and may include fatigue, joint pain, abdominal pain, and skin darkening. However, the onset of symptoms is typically earlier in life compared to other types of Haemochromatosis.
Diagnosis
Diagnosis of Haemochromatosis type 3 involves blood tests to measure iron levels, genetic testing to identify the TFR2 mutation, and sometimes liver biopsy to assess iron accumulation and damage.
Treatment
Treatment for Haemochromatosis type 3 primarily involves therapeutic phlebotomy, a procedure to remove blood from the body to reduce iron levels. In some cases, chelation therapy may be used to remove excess iron.
Related Terms
External links
- Medical encyclopedia article on Haemochromatosis type 3
- Wikipedia's article - Haemochromatosis type 3
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