Thalassemia

What is Thalassemia:

Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, leading to inadequate oxygen transport throughout the body. Hemoglobin, a protein in red blood cells, carries oxygen from the lungs to tissues and organs. Individuals with thalassemia have either reduced or abnormal hemoglobin, causing anemia and other complications.

Side effects of Thalassemia:

The severity of thalassemia symptoms varies depending on the type and severity of the condition. Common side effects include:

•  Fatigue and weakness due to anemia.
•  Jaundice, caused by the breakdown of red blood cells.
•  Bone deformities and growth delays, particularly in children.
•  Enlarged spleen and liver due to increased red blood cell destruction.
•  Poor growth and development in children.
•  Heart problems, such as arrhythmias or heart failure, in severe cases.

How is Thalassemia diagnosed?:

Diagnosing thalassemia involves several steps, including:

•  Blood tests: A complete blood count (CBC) can reveal anemia and abnormal red blood cell indices.
•  Hemoglobin electrophoresis: This test identifies the types of hemoglobin present in the blood, helping to differentiate thalassemia from other hemoglobin disorders.
•  Genetic testing: DNA analysis can identify specific mutations associated with thalassemia.

Potential treatments of Thalassemia:

While there is no cure for thalassemia, treatment aims to manage symptoms and improve quality of life. Options may include:

•  Blood transfusions: Regular transfusions can replenish healthy red blood cells and alleviate anemia.
•  Iron chelation therapy: Since frequent transfusions can lead to iron overload in the body, chelation therapy helps remove excess iron to prevent organ damage.
•  Folic acid supplements: Folic acid supplementation supports red blood cell production and can help counteract the effects of anemia.
•  Bone marrow transplant: For eligible patients, a bone marrow transplant can potentially cure thalassemia by replacing defective bone marrow with healthy donor cells.
•  Gene therapy: Experimental treatments involving gene editing aim to correct the genetic mutations responsible for thalassemia.

👉 Contact us for further information and receive acomplimentary consultation.