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
  • Jaundice
  • Enlargement of the spleen, liver and heart
  • Weak bones
  • Extreme fatigue
  • Shortness of breath
Tests to diagnose: 

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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