Thalassemia
Kartavya Desk Staff
Source: TH
Context: On World Thalassemia Day, experts revealed that West Bengal’s Thalassemia carrier rate (6–10%) is well above the national average (3–4%), due to low awareness and limited genetic screening.
About Thalassemia:
• What is Thalassemia?
• Thalassemia is an inherited blood disorder where the body produces insufficient or abnormal haemoglobin, impairing oxygen delivery. It is one of the most common single-gene disorders globally, especially prevalent in South Asia.
• Thalassemia is an inherited blood disorder where the body produces insufficient or abnormal haemoglobin, impairing oxygen delivery.
• It is one of the most common single-gene disorders globally, especially prevalent in South Asia.
• Caused By:
• Result of mutations or deletions in genes that produce haemoglobin chains (alpha or beta). Passed genetically from both parents, either as a carrier (minor) or a full expression (major).
• Result of mutations or deletions in genes that produce haemoglobin chains (alpha or beta).
• Passed genetically from both parents, either as a carrier (minor) or a full expression (major).
• Types of Thalassemia: Alpha Thalassemia:
• Alpha Thalassemia:
• Involves up to 4 gene deletions; severity depends on how many are missing. Most common in people of Southeast Asian, Middle Eastern, and African ancestry.
• Involves up to 4 gene deletions; severity depends on how many are missing. Most common in people of Southeast Asian, Middle Eastern, and African ancestry.
• Involves up to 4 gene deletions; severity depends on how many are missing.
• Most common in people of Southeast Asian, Middle Eastern, and African ancestry.
• Beta Thalassemia:
• Caused by mutations in the beta-globin gene. Prevalent among people of Mediterranean, South Asian, and Chinese descent. Includes:
• Caused by mutations in the beta-globin gene. Prevalent among people of Mediterranean, South Asian, and Chinese descent. Includes:
• Caused by mutations in the beta-globin gene.
• Prevalent among people of Mediterranean, South Asian, and Chinese descent.
• Thalassemia Minor (carrier, mild or no symptoms)
• Thalassemia Major / Cooley Anaemia (severe form needing lifelong transfusions)
• Symptoms: Fatigue and weakness, Pale or yellow skin (jaundice), Facial bone deformities, Growth retardation, Enlarged spleen and liver, and Shortness of breath
• Impacts:
• Affects quality and longevity of life; untreated major cases may result in death before age 30. Leads to social, emotional, and financial burden, especially in high-prevalence regions.
• Affects quality and longevity of life; untreated major cases may result in death before age 30.
• Leads to social, emotional, and financial burden, especially in high-prevalence regions.
• Treatment:
• Regular blood transfusions to maintain haemoglobin levels. Iron chelation therapy to prevent iron overload. Bone marrow/stem cell transplantation: only curative option in select cases. Supportive care: vaccinations, nutritional support, and mental health counselling.
• Regular blood transfusions to maintain haemoglobin levels.
• Iron chelation therapy to prevent iron overload.
• Bone marrow/stem cell transplantation: only curative option in select cases.
• Supportive care: vaccinations, nutritional support, and mental health counselling.