What is Thalassemia ?

Jankalyan blood centre    20-Apr-2022
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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.
 
Thalassemia
  • 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
 Frequent hospitalization
 Complications of disease
 Complications of blood transfusion
 Limitations of treatment
 Poor Quality of life
 Limited life span of child
 Treatment Expenditure
 
Tragedy –
  • 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.

Diagnosis –
      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
 
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.