Atransferrinemia
Atransferrinemia
Atransferrinemia (pronounced as a-trans-fer-ri-ne-mia) is a rare, autosomal recessive disorder characterized by an absence of transferrin, a plasma protein that transports iron throughout the body.
Etymology
The term "Atransferrinemia" is derived from the Greek prefix 'a-' meaning 'without', 'trans-' meaning 'across', 'ferrum' meaning 'iron', and '-emia' meaning 'in the blood'. Thus, it literally means 'without transferrin in the blood'.
Symptoms
The main symptoms of Atransferrinemia include anemia, iron overload, and recurrent infections due to impaired immune system function.
Diagnosis
Diagnosis of Atransferrinemia is typically made through blood tests showing very low or absent transferrin levels, high serum iron levels, and other signs of iron overload. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Atransferrinemia is primarily supportive and includes iron chelation therapy to reduce iron overload, and blood transfusions to treat anemia.
Prognosis
The prognosis for individuals with Atransferrinemia varies. With early diagnosis and appropriate treatment, many individuals can lead normal lives. However, complications such as heart disease and liver damage due to iron overload can affect life expectancy.
See also
External links
- Medical encyclopedia article on Atransferrinemia
- Wikipedia's article - Atransferrinemia
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