FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hemoglobin H disease ID (Ontology) DOID:0110031 (Human 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.
Also Known As "alpha thalassemia, haemoglobin H type" ; "alpha thalassemia, hemoglobin H type" ; "alpha-thalassemia intermedia" (for all, see Synonyms field below)
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 Genes
 hemoglobin H disease       1
 for disease ribbon | hemoglobin H disease       1
 model of | hemoglobin H disease       1
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  thalassemia
   |__alpha thalassemia
       |__hemoglobin H disease  1 rec.
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Synonyms
  • "alpha thalassemia, haemoglobin H type" EXACT
    "alpha thalassemia, hemoglobin H type" EXACT
    "alpha-thalassemia intermedia" EXACT
    "haemoglobin H disease" EXACT
    "haemoglobin H disease, deletional" EXACT
    "HBH" EXACT OMO:0003012
    "hemoglobin H disease, deletional" EXACT
Secondary IDs
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ICD10CM:D56.0
MIM:613978
ORDO:93616