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MIRAGE
familial erythrocytosis 7

Summary
Synonym
  • ECYT7
  • alpha-globin type erythrocytosis
  • alpha-globin type polycythemia
Definition
A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3.
Super Class
primary polycythemia
Disease Ontology
DOID:0111631
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3039 HBA1 hemoglobin subunit alpha 1
3040 HBA2 hemoglobin subunit alpha 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P69905 Hemoglobin subunit alpha
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025