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hemoglobin H disease
Summary
- Synonym
-
- HBH
- alpha thalassemia, haemoglobin H type
- alpha thalassemia, hemoglobin H type
- alpha-thalassemia intermedia
- haemoglobin H disease
- haemoglobin H disease, deletional
- hemoglobin H disease, deletional
- Definition
- An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.
- Super Class
- alpha thalassemia
External Links
- Disease Ontology
- DOID:0110031
- Mondo Disease Ontology
- ORDO
- OMIM
