hemoglobin C-beta-thalassemia syndrome
Findings
No curated finding names hemoglobin C-beta-thalassemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.
Definition from the Mondo Disease Ontology (MONDO:0016490), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hemoglobinHPOHP:0011902
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Microcytic anemiaHPOHP:0001935
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HBBHGNC:4827
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: hemoglobin C-beta-thalassemia syndrome
- Also called
- C-beta-thalassemiaHBC-beta-thalassemia syndrome