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
External Links
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: August 19, 2024