Human Gene Set: HP_HBS_HEMOGLOBIN


Standard name HP_HBS_HEMOGLOBIN
Systematic name M48915
Brief description HbS hemoglobin
Full description or abstract Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. [https://orcid.org/0000-0002-0736-9199, PMID:34406727, PMID:3953566]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0045047
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0045047
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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