alpha-thalassemia myelodysplasia syndrome

Term ID

DOID:0112125

Synonyms

• acquired HbH disease
• acquired hemoglobin H disease
• alpha-thalassemia-myelodysplastic syndrome
• ATMDS

Definition

A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. https://pubmed.ncbi.nlm.nih.gov/12858175/

References

• MESH:C563023
• OMIM:300448
• ORDO:231401
• SNOMEDCT_US_2023_03_01:307343001
• UMLS_CUI:C0585216

Ontology

Human Disease   ( DOID:0112125 )