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What Are The Long Term Effects Of Thalassemia?

Thalassemia is a blood related disease and blood is an important tissue of the body connecting various organs. Thus, thalassemia may cause long term effects on vital organs.

What Are The Long Term Effects Of Thalassemia?

Thalassemia is the condition of production of abnormal hemoglobin synthesis due to the mutation of genes regulations its synthesis. The severity of the disease is defined on the basis of number of related genes that gets mutated. Thalassemia, if not managed properly, can lead to various complications in the long run. Further, the treatment of thalassemia has their own side effects. Following are the long term effects related to thalassemia:

  1. Severe Anemia: Red blood cells are synthesized form the stem cells present in the bone marrow of the long bones. For the preparation of red blood cells, hemoglobin is required. The hemoglobin available to the bone marrow is abnormal in case of thalassemia. Further the rate of destruction of red blood cells also increased due to unavailability of normal hemoglobin. Thus, the reduction in levels of red blood cells led to mild to severe anemia. The symptoms related to anemia include fatigue, tiredness, dizziness and headache. Further, as the red blood cells are responsible for providing reddish color, the skin becomes pale and yellow color occurs in eyes and mucous membrane.
  2. Iron Accumulation: Iron accumulation is one of the major side effects of the therapy for thalassemia. The standard therapy for thalassemia is frequent blood transfusion. This leads to increased iron concentration in the body. Further, in thalassemia, the rate of erythrocytes degradation increases, further increases the level of iron. The condition becomes more complex due to increased absorption of iron from the intestine. This iron causes the life-threatening condition as this accumulates in the vital organs such as heart and liver and interferes in their functioning. Various iron chelating agents are used as an adjuvant therapy to reduce the level of iron in the body by removing them.
  3. Organ Failure: As the oxygen supply is limited in the body due to low level of red blood cells, several vital organs perform under stress and the condition may lead to organ failure. Further, the iron accumulation in the vital organs such as heart and liver may lead to organ failure. Also, studies also direct the negative effect of thalassemia on kidney.
  4. Splenomegaly: As the rate of destruction of red blood cells increases, the spleen becomes overactive and increase in size. This increase in size of the spleen is known as splenomegaly. Further, splenomegaly also increases the rate of destruction of white blood cells making the patient immune-compromised and increasing the risk of infection.
  5. Hepatomegaly: One of the long term effects of thalassemia is enlargement of the size of liver, a condition called as hepatomegaly. The size of the liver increases so as to perform the metabolism of various substances present as the erythrocytes is destroyed.
  6. Growth And Development: As the energy level of patient is low thus the infants and the children suffering from thalassemia fails to achieve the milestones. Thus, the children have slow growth and development and do not gain weight.
  7. Bone Deformations: As the bone barrow is under stress to produce more red blood cells due to anemia, resulting in excess growth of the bones leading to bone deformation. The bone deformation is generally seen in long bones such as humerus and femur and some facial bones.
  8. Extramedullary Hematopoiesis: In order to compensate for the reduction in red blood cells, masses are formed in various organs due to production of red blood cells outside the bone marrow. These are generally found in liver, spleen and lymph nodes.
  9. Risk Of Fracture And Osteoporosis: As the bone marrow of the long bones grows, the bones of these organs become brittle and the risk of fracture increases. The facial bones that are deformed are also at risk for fracture.


Various long term effects due to thalassemia involve severe anemia, splenomegaly, hepatomegaly, bone deformation, increased risk of fracture, iron toxicity and organ failure.


  1. “Thalassemia” – Mayo Clinic https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995
  2. “Thalassemia” – Centers for Disease Control and Prevention (CDC) https://www.cdc.gov/ncbddd/thalassemia/facts.html

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Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:July 24, 2023

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