What is Thalassemia?

Hi Everyone. I am starting this blog to let the world know about a genetic disorder which is becoming more common by the day. Every year around 100,000 children are being born with this disorder. This is Thalassemia. It’s a blood disorder or as know in scientific terms a haemoglobinopathy. So let’s begin this blog by answering the very basic question

What is Thalassemia?

Thalassemia is an inherited blood disorder which is characterized by abnormal red blood cells. In people having this disorder the body does not generate RBCs which have hemoglobin. In fact in some patients it does not generate RBCs itself. This is caused by a mutation in either the alpha or beta globulin in our DNA.

Now the next question that you might ask is how you can get this disorder.  Thalassemia is inherited in an autosomal recessive pattern.  So the only way you can have this is when the mutation is present in the genetic code of both parents and the child receives the abnormal gene from both parents. The figure below should give you an idea of how it works.

                I have talked a lot about what thalassemia is but how do we know if a person has the disorder. This actually is a good question as the symptoms shown by people who have this disorder are very noticeable. First of all they will have a tendency to be anemic. Since their body does not generate RBCs they show all the signs of a person having anemia. This also has a additional effect of making the person weak and fatigued when the Hb level drops. Since their blood cannot carry enough oxygen they become very lethargic. Their growth is slow and facial bones might show deformities.

                But all is not dark and bleak in the life of thalassemics. The very nature and definition of the disorder gives us an idea of how patients can lead a normal life. Thalassemia Major Patients in severe cases might need blood (specifically RBC) transfusions at regular intervals. Since every transfusion adds more iron to your body the next need is to remove that iron from the body. And this is done using iron chelators. And if you can maintain a good balance of this treatment you can live a long life.

                This was an introduction to Thalassemia so please add this to your reading list for further updates. Through this blog I will be sharing more information and knowledge about thalassemia.