Term Name: | hemoglobin H disease |
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Synonyms: | alpha thalassemia, haemoglobin H type, alpha thalassemia, hemoglobin H type, alpha-thalassemia intermedia, haemoglobin H disease, haemoglobin H disease, deletional, HBH, 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. |
Ontology: | Human Disease [DOID:0110031] ( DOID:0110031 ) |