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Posted on Apr 19, 2022

Causes and Complications of Thalassemia

The body makes 3 types of blood cells: Red Blood Cells, White Blood Cells and Platelets.  Red blood cells contain hemoglobin (Hb), an iron-rich protein that carries oxygen from lungs to all parts of body.

Hemoglobin has two kinds of protein chains. If body doesn’t make enough of these protein chains or they’re abnormal, the red blood cells won’t carry enough oxygen. Genes are responsible to control how the body makes hemoglobin protein chains. When these genes are missing or mutated, thalassemia occurs. Thalassemia is an inherited disorder—that is, they’re passed from one generation to another through genes.

Complications of Thalassemia

The most common complications are:

  • Iron overload– This may happen because of the frequent blood transfusions or the disease itself.
    Iron overload raises the risk of types of hepatitis (swollen liver), fibrosis (enlarged liver) or cirrhosis in which liver becomes progressively damaged.
    The pituitary gland is also sensitive to iron overload and can be damaged, which may lead to delay in puberty and restricted growth. Later on after puberty the patient may be at a higher risk of developing diabetes, and having either a hypo or hyper- thyroid.
    Iron overload raises the risk of abnormal heart rhythms which is commonly called as arrhythmias and congestive heart failure.
  • Enlarged spleen –It is also known as hypersplenism. The spleen is the organ of the body which recycles red blood cells. In thalassemia patients the red blood cells may have an abnormal shape, making it difficult for spleen to recycle them; the red blood cells accumulate in the spleen, which results in the increase in size of spleen. An enlarged spleen may become overactive – it starts destroying healthy blood cells. Sometimes if the condition worsens, the patient may need a splenectomy which is surgical removal of the spleen.
  • Infection– If the patient has undergone spleen removal, there is a greater risk of infection.
  • Bone deformities– In some patients, the bone marrow expands which deforms the bone around it and becomes brittle, increasing the risk of fracture. The bones of the skull and face may also be affected.

It is recommended that a patient who is diagnosed with Thalassemia consults a hematologist at the earliest and follows a strict medical management regime.