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By Mayo Clinic staffSigns and symptoms of thalassemia include:
- Fatigue
- Weakness
- Shortness of breath
- Pale appearance
- Irritability
- Yellow discoloration of skin (jaundice)
- Facial bone deformities
- Slow growth
- Protruding abdomen
- Dark urine
The signs and symptoms you experience depend on your type and severity of thalassemia. Some babies show signs and symptoms of thalassemia at birth, while others may develop signs or symptoms later, during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.
When to see a doctor
Make an appointment with your child's doctor for an evaluation if he or she has any of the following signs or symptoms of thalassemia:
- Fatigue
- Weakness
- Shortness of breath
- Yellow discoloration of the skin (jaundice)
- Bone deformities in the face
- Slow growth
- Protruding abdomen
- Dark urine
- What are thalassemias? National Heart Lung and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/Thalassemia/Thalassemia_All.html. Accessed Nov. 19, 2008.
- Cunningham MJ. Update on thalassemia: Clinical care and complications. Pediatric Clinics of North America. 2008;55:447.
- Benz EJ. Clinical manifestations of the thalassemias. http://www.uptodate.com/home/index.html. Accessed Nov. 10, 2008.
- Schrier SL. Pathophysiology of beta thalassemia. http://www.uptodate.com/home/index.html. Accessed Nov. 10, 2008.
- Embury SH. Prenatal testing for the hemoglobinopathies and thalassemias. http://www.uptodate.com/home/index.html. Accessed Nov. 10, 2008.
- Benz EJ. Treatment of beta thalassemia. http://www.uptodate.com/home/index.html. Accessed Nov. 10, 2008.