What is Thalassaemia?
Thalassaemia is an inherited blood disorder where the body produces abnormal or insufficient hemoglobin, the protein in red blood cells that carries oxygen throughout the body.
Types of Thalassaemia
Alpha Thalassaemia
- Caused by missing or damaged alpha globin genes
- Ranges from mild to severe forms
- Most common in Southeast Asian, African, and Mediterranean populations
Beta Thalassaemia
- Caused by defects in beta globin genes
- Categories include:
- Thalassaemia Major (severe)
- Thalassaemia Intermedia (moderate)
- Thalassaemia Minor (mild)
Common Symptoms
- Fatigue and weakness
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
Diagnosis
- Complete blood count (CBC)
- Hemoglobin electrophoresis
- Genetic testing
- Family history assessment
Treatment Options
-
Regular Blood Transfusions
- Maintains healthy hemoglobin levels
- Usually every 2-4 weeks
-
Iron Chelation Therapy
- Removes excess iron from transfusions
- Prevents organ damage
-
Bone Marrow Transplant
- Potential cure for severe cases
- Requires compatible donor
Living with Thalassaemia
- Regular medical monitoring
- Balanced diet rich in folic acid
- Avoid iron supplements unless prescribed
- Vaccination against hepatitis
- Regular exercise as tolerated
Prevention
- Genetic counseling before pregnancy
- Prenatal testing
- Family screening
When to Seek Medical Help
- Unexplained fatigue
- Shortness of breath
- Rapid heartbeat
- Jaundice
- Delayed growth in children