Search Ontology:
Human Disease

hemoglobin H disease

Term ID
DOID:0110031
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. https://www.ncbi.nlm.nih.gov/pubmed/12393486
References
Ontology
Human Disease   ( DOID:0110031 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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