hemoglobin H disease (DOID:0110031)
Alliance: disease page
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
Alt IDs: OMIM:613978, ICD10CM:D56.0, ORDO:93616
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.