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About Thalassemia

What is Thalassemia ?

The term ‘Thalassemia’ refers to a group of blood diseases characterised by decreased or absent synthesis of one or more of the normal globin chains.

 

It is estimated that, even today, approximately 10,000 new infants are born with homozygous β-thalassemia each year in India and the vast majority of them are transfusion– dependent.

 

The frequency of β -thalassemia trait has variously been reported from <1% to 17% and an average of 3.3%.

Types Of Thalassemia

  • β -thalassemia Minor / Trait /Carrier State: These individuals will often have a mild anemia of 9-10 gm/dl, though the haemoglobin may be entirely normal. They do not suffer from any disease but carry the abnormal gene and transmit it to the next generation. Carriers cannot be recognized clinically but only by performing special blood tests.

  • Thalassemia Intermedia: Individuals  with thalassemia intermedia present later than those with thalassemia major, have milder anaemia and, by definition ,do not require or only occasionally require transfusions.  At the severe end of the clinical spectrum, patients are brought  to medical attention between the ages of 2 and 6 years with retarded growth and development . At the other end of the spectrum are patients who are completely asymptomatic until adult life with only mild anaemia.

  • 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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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.

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