Heinz body anemia

Summary
Definition
A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.
Super Class
autosomal dominant disease congenital nonspherocytic hemolytic anemia
Disease Ontology
DOID:0111363
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
3039 HBA1 hemoglobin subunit alpha 1
3040 HBA2 hemoglobin subunit alpha 2
3043 HBB hemoglobin subunit beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
14782 Gsr glutathione reductase
Displaying 1 entry
Gene ID Gene Symbol Description Source
856014 GLR1 glutathione-disulfide reductase GLR1

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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: December 9, 2024