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Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
9 publications have been identified in PubMed for sickle cell-beta-thalassemia disease syndrome. Research spans Epidemiology / Natural History (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Bengaly D (2026). [PMID: 41547258](https://pubmed.ncbi.nlm.nih.gov/41547258/). *J Fr Ophtalmol*. [Epidemiology / Natural History]
Askari F (2026). [PMID: 41467239](https://pubmed.ncbi.nlm.nih.gov/41467239/). *Health Sci Rep*. [Epidemiology / Natural History]
Tokuno H (2025). [PMID: 40666551](https://pubmed.ncbi.nlm.nih.gov/40666551/). *Cureus*. [Case Report / Case Series]
Casale M (2025). [PMID: 40437545](https://pubmed.ncbi.nlm.nih.gov/40437545/). *Ital J Pediatr*. [Review / Meta-Analysis]
Shadmani G (2025). [PMID: 40935661](https://pubmed.ncbi.nlm.nih.gov/40935661/). *AJNR Am J Neuroradiol*. [Review / Meta-Analysis]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:43 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Alghorayed R (2024). [PMID: 39114188](https://pubmed.ncbi.nlm.nih.gov/39114188/). *Cureus*. [Epidemiology / Natural History]
Se B (2024). [PMID: 38993733](https://pubmed.ncbi.nlm.nih.gov/38993733/). *J Hematol*. [Case Report / Case Series]
Gomez S (2024). [PMID: 39426879](https://pubmed.ncbi.nlm.nih.gov/39426879/). *Hematol Transfus Cell Ther*. [Epidemiology / Natural History]