Disease

Beta-thalassemia1, 2, 3

Gene

HBB

Inheritance AR
Current Treatments gene therapy (betibeglogene autotemcel - clinical trial), red cell transfusions, bone marrow transplantation (Hematopoietic Stem Cell Transplantation (HSCT)), Luspatercept
Evidence for Treatment guideline4
Non-Molecular Testing Availability yes
Non-Molecular Test complete blood count, qualitative and quantitative hemoglobin analysis1
Disease Frequency (per 100,000) 75
Genes Included in Disease Frequency HBB
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Beta-Thalassemia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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