Those who have inherited the defective gene for alpha chain of hemoglobin usually do not show any symptoms. The symptoms include:
- Severe anemia
- Loss of appetite
- Dark coloured urine
- Delayed growth and puberty
- Enlargement of the spleen, liver and heart
- Weak bones
- Extreme fatigue
- Shortness of breath
A physical exam may reveal a swollen (enlarged) spleen. Other tests include Complete blood count (CBC), hemoglobin electrophoresis and pre-natal testing.
- Treatment for thalassemia major often involves regular blood transfusions and folate supplements.
- Iron chelation therapy: Deferoxamine and Deferasirox are common iron-chelators that bind free iron in the blood and prevent its elimination through urine.
- A bone marrow transplant may help treat the disease in some patients, especially children.
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