What is Thalassemia

• Thalassemia is a genetic disorder characterized by production of abnormal hemoglobin, and premature destruction of red blood cells resulting into Anemia.
• Thalassemia is transmitted from parents to their children. It is a genetic disease.
• The parents are carriers of disease. Carrier usually does not have disease symptoms clinically, but he or she carries the genes of the disorder.
• When both parents are CARRIERS, there are high chances of disease being passed to the next generation.

 

• As above figure shows, if both the parents are thalassemia carriers or minors, then there are 75 % chances for thalessamia to be transferred in the next generation and 25 % chances for the child to be a thalessamia major who will need lifelong blood transfusions. (If only one spouse is thalessamia carrier and another is normal than they can live their normal life without any trouble.)
• In thallasemia major, patient requires monthly blood transfusion FOR THE WHOLE LIFE. The patient in addition suffers from complications due to disease itself and due to blood transfusions.
• Kids who receive frequent blood transfusions may have to take medications to remove excess iron from their body-Chelation Therapy.
• Along with this the supportive treatment like, Treatment of infections, Vaccinations, Spleen removal if required and treatment of complications as required is also needed.

• Southern India -1 to 3%
• Northern India-3 to 15% Carrier rate especially high in-
• Sindhis Punjabis Bhanushalis (North India)
• Kutchis, Lohana’s (Gujarat)
• Mahar, Neobuddhist’s, Koli’s, Agri’s, Muslims (Maharashtra)
• Gowda’s and Lingayat’s (Karnataka)

Higher rates are related to consanguineous marriage . i. e. marriages amongst relatives

 

 Tremendous psychological stress

 Agony to see many needle pricks of child

 Frequent hospitalization

 Complications of disease

 Complications of blood transfusion

 Limitations of treatment

 Poor Quality of life

 Limited life span of child

 Treatment Expenditure

 

• A 15-year-old thalessamic child has received around 250 units of packed red cells and 4000 injections of desferioxamine.
• He has had a needle in his body for over 40,000 hours of his life. His family has already spent Rs. 16,20,000 for chelation alone.

      In most cases, thalassemia is diagnosed before a child's second birthday. Diagnosis is done by-

• Blood tests like detailed hemogram
• Hb Electrophoresis
• Sr.Feritin
• Genetic typing

 

• At present, thallasemia can only be cured by a procedure called a bone marrow transplant. Bone marrow, which is found inside bones, produces blood cells. In a bone marrow transplant, children are first given high doses of radiation or drugs to destroy the defective bone marrow. The bone marrow is then replaced with cells from a compatible donor, usually a healthy sibling or other relative.
• It requires set up and is Very costly, costs around 6 to 10 lakhs in private set up.