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news details
Knowing Thalassaemia
5/7/2025 11:13:01 PM
Dr. Kanka Pandita

Entire world is celebrating Thalassaemia Day annually on 8th of May to create mass awareness about the condition and impact of this dreadful disease. This year its theme has been chosen as “ Together for Thalassaemia : Uniting Communities and prioritizing Patients ”.
India being no longer an exception to this endeavor, has already launched nationwide programme “Mission 2035” in collaboration with Fortis Hospital Group through Public Private Participation (PPP) to eliminate this disease by the year 2035 and also commemorate patients who died as a result of this genetic disease and encourage those who are still alive and struggle with it daily.
Worldwide with an estimated 10 crore people carrying genes responsible for Thalassaemia and more than 3 lakh babies born with severe forms of this disease every year, this disorder is heterogeneous group of inherited anaemias characterized by defects in synthesis of one or more globulin chain subunits of hemoglobin in the Red Blood Cells (RBC) of the blood. Thalassaemia is derived from Greek word “Thalassa” meaning sea and “emia” (latin word) meaning blood and is also commonly referred as Sea Blood.
The clinical symptoms arise from combined consequences of inadequate hemoglobin production that leads to production of defective red blood cells or premature death of these red blood cells or even depletion of bone marrow. Its diverse clinical manifestations ranging from profound anemia to biosynthetic defects and combined modifying factors which are fatal in early childhood if left untreated. Due to turmoil in bone marrow, it expands which stretch the bones and due to other related ailments resulting in to deformation, protrusion of abdomen, marked enlargement of spleen and liver and causes other serious complications. In Thalassaemia due to genetic defect, particular type of a hemoglobin ( Foetal hemoglobin ) continues to produce even after the birth of a child while adult hemoglobin is not produced or produced in smaller quantity due to which patients suffer from chronic anemia resulting in to severe decrease in oxygen carrying capacity of blood to tissues and organs of the body.
Thalassaemia is an inherited disorder , if both parents are carriers of this gene, then there are 25 % chances of baby being born as Thallasaemic major while 50 % carriers and 25 % will be normal. The carrier persons remain asymptomatic and do not require treatment but they should not marry a carrier, at least without getting proper genetic counseling and pre-natal diagnosis at 10 to 20 weeks of pregnancy.
Blood transfusion, is the readily adopted most common treatment for B Thalassameia Major patients where Transfusion Dependent Thal ( TDT ) classified patients require lifelong regular blood transfusion therapy for their survival when Non Transfusion Dependant Thal ( NTDT ) patients do not require lifelong blood transfusion. Further drugs that target ineffective red blood cell production and anemia are also used frequently for enhancing life span of RBCs ultimately reducing the transfusion requirement. Curative treatment by Bone marrow and stem cell transplant is another option of treatment which is not so easily affordable under Indian conditions.
Only patients suffering with Thalassaemia and their loved ones understand the agony and complications of this dreadful disease, which not only affect their pockets that lead to their continuous mental stress, adversely affecting their routine functioning but also cause regular humiliation to these patients besides facing continuous risk of their life threat.
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