non-spherocytic hemolytic anemia due to hexokinase deficiency
Findings
No curated finding names non-spherocytic hemolytic anemia due to hexokinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009340), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- Nonspherocytic hemolytic anemiaHPOHP:0001930
- 1 of 1 reported patient
- Reduced erythrocyte hexokinase activityHPOHP:6000559
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HK1HGNC:4922
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: non-spherocytic hemolytic anemia due to hexokinase deficiency
- Also called
- anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficienthemolytic anaemia due to hexokinase deficiencyhemolytic anemia due to hexokinase deficiencyhemolytic anemia, nonspherocytic, due to hexokinase deficiencynonspherocytic hemolytic anaemia due to hexokinase deficiencynonspherocytic hemolytic anemia due to hexokinase deficiency