Disease association ontology term - MONDO:0009340 - non-spherocytic hemolytic anemia due to hexokinase deficiency
Term summary
- ID
- MONDO:0009340
- Name
- non-spherocytic hemolytic anemia due to hexokinase deficiency
- Ontology or CV name
- Disease association
- Definition
- Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.
