alpha-thalassemia-myelodysplastic syndrome
MONDO:0010328Mondo
Findings
No curated finding names alpha-thalassemia-myelodysplastic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
Definition from the Mondo Disease Ontology (MONDO:0010328), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Decreased total neutrophil countHPOHP:0001875
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- HbH hemoglobinHPOHP:0011903
- Very frequent (80% to 99% of cases)
- Microcytic anemiaHPOHP:0001935
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- Acute leukemiaHPOHP:0002488
- Occasional (5% to 29% of cases)
- ImmunodeficiencyHPOHP:0002721
- Occasional (5% to 29% of cases)
- MyelodysplasiaHPOHP:0002863
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
Show the remaining 2
- Hypochromic microcytic anemiaHPOHP:0004840
- Reduced alpha/beta synthesis ratioHPOHP:0011907
Where it sits
Other names
5 names
Resolves to: alpha-thalassemia-myelodysplastic syndrome
- Also called
- acquired haemoglobin H diseaseacquired HbH diseaseacquired hemoglobin H diseasealpha-thalassemia myelodysplasia syndrome, somaticATMDS