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What is Thalassemia?

Thalassemia is an inherited blood disorder in which the patient’s body makes inadequate amount or abnormal form of haemoglobin. Haemoglobin of Red Blood Cells carries oxygen through the body. Thalassemia results in damage of large number of RBCs thereby making the patient anemic.

Thalassemia is a genetic disorder. Thalassemia is caused by mutations in the DNA of cells that forms the haemoglobin & these are passed from parents to children.

There are two proteins involved in the formation of haemoglobin, viz. Alpha and Beta proteins. Type of Thalassemia depends on these two proteins. Alpha thalassemia means the body lacks alpha haemoglobin & Beta thalassemia is when the body lacks Beta haemoglobin.

Signs & symptoms of Thalassemia

Signs & symptoms of Thalassemia are:

  • Fatigue
  • Weakness
  • Brittle bones
  • Loss of appetite
  • Pale or yellow skin
  • Jaundice
  • Swelling in the abdomen
  • Dark urine
  • Delayed growth in children
  • Heart problems

Diagnosis of Thalassemia

For the diagnosis of Thalassemia, the doctors advise:

  • CBC (Complete Blood count) & haemoglobin electrophoresis test.  or
  • Prenatal Examinations- Certain tests can be done before a baby is born to find out if the baby has thalassemia. These tests are:
  • Chorionic villus sampling test involves removal of tiny piece of the placenta for evaluation and is usually done around the 11th week of pregnancy.
  • Amniocentesis involves taking a sample of the amniotic fluid that surrounds the foetus and is usually done around the 16th week of pregnancy.

Treatment of Thalassemia

Mild cases of thalassemia require no treatment. Occasionally, blood transfusion and surgery is required to help manage thalassemia complications. Treatment is required for moderate to severe thalassemia. The treatment options are:

Blood transfusions

Severe forms of thalassemia require blood transfusions require eight and twelve transfusions in a year.

Iron chelation therapy

Iron Chelation involves removal of excess iron from the bloodstream which is caused by blood transfusions and can lead to heart and other organs damage.

Bone marrow transplant

Bone Marrow or Stem Cell Transplant involves transferring of stem cells or bone marrow from a compatible donor, usually sibling. This procedure eliminates the lifelong blood transfusions and drugs to control excess of iron.


Surgery is done to correct the abnormalities of bone.

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