Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
The limited documentation surrounding beta-thalassemia major reflects the challenges of studying rare diseases that affect a small population. Because this condition is not widely prevalent, comprehensive clinical studies have been limited. Additionally, the absence of identified genetic markers complicates the ability to establish clear diagnostic and management guidelines.
To navigate your care for beta-thalassemia major, consider seeking a hematologist with expertise in blood disorders, particularly those specializing in thalassemias. While there are currently no specific patient organizations identified, you may find resources through the National Organization for Rare Disorders (NORD) at rarediseases.org. Additionally, inquire about participation in clinical trials, as these may provide access to cutting-edge therapies. Genetic counseling may also be beneficial, especially if familial patterns of the disease are suspected.
Currently, there is a designated orphan drug in development, specifically a lentiviral vector encoded with a human beta-globin gene plasmid. Additionally, there are 103 active clinical trials exploring various aspects of beta-thalassemia major. You can find more information on these trials by visiting ClinicalTrials.gov and searching for 'beta-thalassemia major'. This ongoing research offers hope for future treatment options.
Actionable guidance for navigating care for beta-thalassemia major
To navigate your care for beta-thalassemia major, consider seeking a hematologist with expertise in blood disorders, particularly those specializing in thalassemias. While there are currently no specific patient organizations identified, you may find resources through the National Organization for Rare Disorders (NORD) at rarediseases.org. Additionally, inquire about participation in clinical trials, as these may provide access to cutting-edge therapies. Genetic counseling may also be beneficial, especially if familial patterns of the disease are suspected.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease