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Metadata
ID DOID:0110031
Name hemoglobin H disease
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.
https://www.ncbi.nlm.nih.gov/pubmed/12393486
Xrefs

ICD10CM:D56.0

OMIM:613978

ORDO:93616

Synonyms

alpha thalassemia, hemoglobin H type [EXACT]

alpha-thalassemia intermedia [EXACT]

HBH [EXACT]

hemoglobin H disease, deletional [EXACT]

Parent Relationships

is_a alpha thalassemia

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