What is Thalassemia ?
- Thallasemia 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.
Thalessemia Carrier Rate in India –
- 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
What Parents of thalessamic child has to suffer ?
Tremendous psychological stress
Agony to see many needle pricks of child
Complications of disease
Complications of blood transfusion
Limitations of treatment
Poor Quality of life
Limited life span of child
- 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
- Genetic typing
Curative Treatment - Bone marrow Transplant -
- 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.
At the moment, the only practical solution for survival of children with thalassemia major is multiple and frequent blood transfusion throughout life.