Thalassaemia
Thalassaemia (also spelled Thalassemia) is a group of inherited blood disorders characterized by reduced or absent production of hemoglobin, the oxygen-carrying protein found in red blood cells. The disorder leads to anemia, reduced oxygen transport, and abnormal red blood cell formation. :contentReference[oaicite:0]{index=0}
Thalassaemia is caused by genetic mutations affecting globin chain production and is commonly inherited in an autosomal recessive pattern. :contentReference[oaicite:1]{index=1}
Overview
Hemoglobin consists mainly of alpha and beta globin chains. Reduced synthesis of these chains leads to abnormal red blood cells and anemia.
The disease mechanism can be represented as:
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Thalassaemia severity ranges from mild carrier states to severe transfusion-dependent disease. :contentReference[oaicite:3]{index=3}
Types of Thalassaemia
Alpha Thalassaemia
Alpha thalassaemia occurs due to reduced or absent production of alpha-globin chains. Severity depends on the number of affected alpha-globin genes. :contentReference[oaicite:4]{index=4}
Beta Thalassaemia
Beta thalassaemia results from mutations affecting beta-globin chain production.
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Beta thalassaemia may occur as:
- Beta-thalassaemia minor
- Beta-thalassaemia intermedia
- Beta-thalassaemia major
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Genetics
Thalassaemia is inherited genetically from parents.
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If both parents are carriers, children may inherit severe forms of the disorder. :contentReference[oaicite:8]{index=8}
Symptoms
Symptoms vary depending on severity.
Common symptoms include:
- Fatigue
- Weakness
- Pale skin
- Shortness of breath
- Delayed growth
- Enlarged spleen
- Bone deformities
- Jaundice
Severe forms may require lifelong medical treatment. :contentReference[oaicite:9]{index=9}
Diagnosis
Doctors diagnose thalassaemia using:
- Complete blood count (CBC)
- Blood smear
- Hemoglobin electrophoresis
- Genetic testing
- Iron studies
Prenatal testing may also identify the disorder during pregnancy. :contentReference[oaicite:10]{index=10}
Treatment
Treatment depends on disease severity.
Common treatments include:
- Blood transfusions
- Iron chelation therapy
- Folic acid supplementation
- Bone marrow transplantation
- Gene therapy
Regular blood transfusions may lead to iron overload requiring chelation therapy. :contentReference[oaicite:11]{index=11}
Complications
Possible complications include:
- Severe anemia
- Iron overload
- Heart disease
- Liver damage
- Bone abnormalities
- Growth problems
Untreated severe thalassaemia may become life-threatening. :contentReference[oaicite:12]{index=12}
Epidemiology
Thalassaemia is common in:
- Mediterranean countries
- South Asia
- Southeast Asia
- Middle East
- Africa
The disorder is more frequent in populations historically exposed to malaria. :contentReference[oaicite:13]{index=13}
Prevention
Preventive measures include:
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Family history evaluation
Early diagnosis improves disease management and quality of life. :contentReference[oaicite:14]{index=14}
Importance
Thalassaemia is an important genetic and public health disorder because it affects blood formation, oxygen transport, and long-term health. Advances in transfusion therapy, genetics, and stem cell treatment have improved survival and disease management. :contentReference[oaicite:15]{index=15}