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Stem Cell Treatment for Thalassemia

Potential cure for millions of thalassemia patients

Thalassemia is a genetic blood disorder characterized by abnormalities in the production of hemoglobin, the protein molecule in red blood cells responsible for carrying oxygen throughout the body. It is caused by mutations or deletions in the genes responsible for producing the alpha or beta globin chains of hemoglobin.

Types of Thalassemia

  1. Alpha thalassemia: This occurs when there are defects in the production of alpha globin chains. It is most commonly found in individuals of Southeast Asian, Chinese, or Filipino descent. There are four forms of alpha thalassemia, ranging from mild to severe:
    • Silent carrier: One gene mutation, usually asymptomatic.
    • Alpha thalassemia trait: Two gene mutations, mild anemia.
    • Hemoglobin H disease: Three gene mutations, moderate to severe anemia.
    • Hemoglobin Bart syndrome: Four gene mutations, severe anemia and fetal or neonatal mortality.
  2. Beta thalassemia: This occurs when there are defects in the production of beta globin chains. It is most commonly found in individuals of Mediterranean, Middle Eastern, and South Asian descent. Beta thalassemia has two main forms:
    • Beta thalassemia minor: One gene mutation, typically mild or no symptoms.
    • Beta thalassemia major (also known as Cooley’s anemia): Two gene mutations, severe anemia requiring lifelong medical management and transfusions.


Symptoms of thalassemia can include fatigue, weakness, pale skin, shortness of breath, jaundice (yellowing of the skin and eyes), slow growth and development (in children), enlarged spleen, and skeletal abnormalities in severe cases.


Treatment for thalassemia depends on the type and severity of the condition. Mild forms may not require treatment, while more severe cases may involve regular blood transfusions to manage anemia and complications. Other treatments may include iron chelation therapy to remove excess iron from the body (due to frequent transfusions) and, in some cases, bone marrow transplantation to replace diseased cells with healthy ones.

It is important for individuals with thalassemia to receive ongoing medical care and monitoring to manage symptoms, prevent complications, and maintain a good quality of life. Genetic counseling is also recommended for individuals with a family history of thalassemia or those planning to have children, as it can help assess the risk of passing on the condition.

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