Why in News?
Thalassemia patients in Kerala face declining haemoglobin levels due to a shortage of leukocyte filter sets and iron chelation drugs, delaying transfusions and risking organ damage, with the government calling tenders to replenish supplies soon.
Description:
- Thalassaemia is an inherited (genetic) blood disorder.
- It causes the body to produce less hemoglobin than normal.
- Hemoglobin (Hb) — a protein in red blood cells (RBCs) — carries oxygen throughout the body.
- Deficiency of Hb or RBCs leads to anemia, causing fatigue and weakness.
Cause:
- Genetic mutation in the DNA controlling hemoglobin production.
- Passed on by inheritance — from one or both parents.
- The type of thalassemia depends on which gene mutation (alpha or beta globin) is inherited.
Types:
- Alpha Thalassaemia – mutation in alpha-globin gene.
- Beta Thalassaemia – mutation in beta-globin gene (more common in India).
Symptoms:
Mild to severe anemia, Fatigue and weakness, Pale or yellowish skin, Shortness of breath / dizziness, feeling cold frequently, Slow growth and bone deformities (in severe cases), & Iron overload due to repeated transfusions.
Diagnosis:
- Blood tests – Hemoglobin electrophoresis
- Genetic testing – To detect carrier or affected status
Treatment:
Stem cell or bone marrow transplant – Only potential cure, but rarely done due to high risk and cost.
Regular blood transfusions – Maintain normal Hb levels and prevent severe anemia.
Chelation therapy – Medication to remove excess iron buildup due to transfusions.
Folic acid supplements – To support RBC production.
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