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Thalassemia

Thalassemia is a general name for a group of inherited blood diseases that involve abnormalities in hemoglobin.  With abnormal hemoglobin, red blood cells may not be able to carry enough oxygen to different parts of the body.  Thalassemia is categorized into two types: alpha-thalassemia and beta-thalassemia.

Symptoms

• Mild to severe anemia
• Jaundice or pale skin
• Irritability
• Poor appetite
• Slow growth
• Enlarged spleen
• Gallstones
• Bone abnormalities

Risk Factors

• Family history
• High risk ethnic backgrounds, such as Southeast Asian, Indian, southern Chinese, Greek, Italian, Middle Eastern and African

Genetic Test

• Alpha-thalassemia
  • HBA1
  • HBA2
• Beta-thalassemia
  • HBB

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

National Heart, Lung, and Blood Institute

National Library of Medicine Genetics Home Reference

Thalassaemia International Federation

Support Groups

Cooley’s Anemia Foundation Local Chapters