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:
Those with beta thalassemia minor often are asymptomatic or experience very minor symptoms while those with major often require lifelong medical care to mitigate symptoms. Those with intermediate fall in the middle. While relatively rare in the United States, beta thalassemia is one of the most common autosomal recessive disorders in the world – and has a 1 in 100,000 incidence rate.
What are the symptoms of beta thalassemia?
The characteristic symptom of beta thalassemia is anemia. Further symptoms include:
- Shortness of breath
- Blood clots
Those with beta thalassemia major and intermedia may develop excess levels of iron in the body (iron overload), which primarily results from repeated blood transfusions. Iron overload can cause a variety of symptoms affecting multiple systems of the body, but can be treated by specific medications.
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.