OBO ID: DOID:0110031
Term Name: hemoglobin H disease Search Ontology:
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 hemoglobin H disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HBA1 Hemoglobin H disease, nondeletional 613978
HBA2 Hemoglobin H disease, deletional and nondeletional
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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