THALASSEMIA (Syllabus: GS Paper 3 – Sci and Tech)

Context: Recently, siblings from Pune successfully underwent haploidentical bone marrow transplants at Dharamshila Narayana Hospital, triumphing over thalassemia major.

Thalassemia

• About: It is an inherited blood disorder resulting from inadequate production of hemoglobin, caused by genetic mutations passed from parents to children.

o Hemoglobin is crucial for red blood cell function, and insufficient levels lead to various health issues.

• Symptoms: Fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, abdominal swelling, and dark urine are common symptoms of thalassemia.

o These symptoms vary in severity and can significantly impact quality of life.

• Caused by: Mutations in the DNA of cells responsible for hemoglobin production are the underlying cause of thalassemia.
• Classification:

o Thalassemia is classified based on either the affected part of hemoglobin (alpha or beta) or the severity of the disorder.

o Variants include alpha thalassemia, beta thalassemia, and different degrees of severity such as trait, carrier, intermedia, or major thalassemia.

• Treatment: A blood or bone marrow transplant, also called a hematopoietic stem cells transplant, replaces blood-forming stem cells that aren't working properly with healthy donor cells.
• World Thalassemia Day: 8 May each year