What isThalassemia

Thalassemia is a genetic blood disorder in which a patient cannot make enough Red Blood Cells and needs to be supplemented with RBC transfusions every 2-3 weeks to stay healthy and to survive.

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:

    Silent Carrier
   Alpha Thalassemia Trait
   Hemoglobin H disease
   Hemoglobin H-Constant Spring
   Alpha Thalassemia major

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

  • Minor/carrier/trait : 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.

Testing For Thalassemia

A SIMPLE Blood Test called Hb ELECTOPHORESIS / Hb A2 will tell you whether you are a carrier or have a trait of thalassemia minor.

My Story

My name is Sonam Madaan, and I have thalassemia major from when i was six months old. I require regular blood transfusions every month to keep me healthy and active. The whole process of transfusion takes seven or eight hours, which means I have to spare a full day once every two weeks. There are a lot of complications associated with thalassemia, especially transfusion-related iron overload which requires chelation therapy on a daily basis, and this feeling of knowing that excess iron overload can damage my heart and liver is intimidating. But thanks to the expert care I receive from my doctors, support from my family and my society, I am able to lead a fulfilling and rewarding life.