What is beta thalassemia?Beta thalassemia is a blood disorder characterized by reduced levels of hemoglobin. Hemoglobin is the iron-rich, oxygen-carrying protein found in red blood cells. A main function of red blood cells is carrying oxygen all throughout the body. There are three types of beta thalassemia, which indicate severity:
What are the symptoms of beta thalassemia?The characteristic symptom of beta thalassemia is anemia. Further symptoms include:
- Shortness of breath
- Blood clots
What causes beta thalassemia?Beta thalassemia is a genetic disorder. It is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermedia and major forms have mutations in both.
How is familial beta thalassemia diagnosed?Beta thalassemia is diagnosed based on symptoms, patient history, thorough clinical evaluations, and various specialized tests. Exams include:
- Blood tests
- Molecular genetic testing
What are the treatments for beta thalassemia?Thiotepa is an FDA-approved treatment indicated to treat beta thalassemia. Other symptom treatments include required blood transfusions for those with beta thalassemia major, a splenectomy for those with affected spleens, deferoxamine for those with iron overloads, and more.
Where can I find out more about beta thalassemia?
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