Beta – Thalassaemia is the most common inherited disease in Pakistan. Out of every 100 Pakistanis, 6 are carriers of the Thalassaemic gene. These carriers are healthy individuals without any symptoms and are unaware that they are carrying a lethal gene.

The tragic story starts when two of these carriers get married to each other. They have 1 out of 4 chances of giving birth to a child with Thalassaemia major. After this a heartrending ordeal starts for the parents. These children require a blood transfusion every month of their life from the age of four months to survive. Not only that, the iron overload that they get from blood transfusions has to be removed from their body by means of an injection given to them through a pump – 8 hours a day, 20 days a month.

What isThalassemia

Thalassaemia is an inherited blood disorder and can be simply stated as the inability of the body to produce adequate amount of Hemoglobin in the red blood cells. The result is severe anemia.

Children suffering from this blood disorder require a blood transfusion every 2-3 weeks of their lives in addition to treatment for iron overload due to the excessive number of transfusions.

Types of Thalassemia

Alpha Thalassemia

The alpha thalassemia is caused by a decrease in production of alpha globin chains due to a deletion or mutation of one or more of the four alpha globin genes located on chromosome 16. Alpha gene mapping can be obtained to determine the specific mutation. The alpha thalassemia can be generally categorized as:

  1.  Silent Carrier
  2.  Alpha Thalassemia Trait
  3.  Hemoglobin H disease
  4.  Hemoglobin H-Constant Spring
  5.  Alpha Thalassemia major

Alpha Thalassemia trait in a parent is often discovered after the birth of an effective child.


They appear perfectly healthy, however where two carriers decide a family there is one in four chance that their child could inherit their carrier genes and develop Beta Thalassemia Major, one in four of a child being normal and 50% chance of the child also being a carrier.

Thalassemia Intermedia

A clinical expression for a condition between Carrier and Major .They often run a hemoglobin of 7-9 g/dl. They need transfusions only at times as their Hb drops with infection or any stress on the body. Especially during pregnancy or leg ulcers(seen with chronic hemolytic anemias ).

Thalassemia Major

In thalassaemia major, red blood cells are destroyed almost as soon as they are produced and the bone marrow cannot produce a sufficient number to replace them. This condition requires intensive medical care, including 2-3 weekly transfusions, Iron chelation therapy by giving desferrioxamine injections or by giving oral chelators. For many years, it was thought that thalassemia major patients were untreatable and would inevitably die at an early age. We now know however, that with proper treatment, patients can lead full and fulfilling lives.

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