hemoglobin E-beta-thalassemia syndrome
MONDO:0016491Mondo
Findings
No curated finding names hemoglobin E-beta-thalassemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.
Definition from the Mondo Disease Ontology (MONDO:0016491), 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)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Increased circulating ferritin concentrationHPOHP:0003281
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: hemoglobin E-beta-thalassemia syndrome
- Also called
- E-beta-thalassemiaHbE-beta-thalassemia syndrome