Details of Disease

General Information of Disease (ID: DISTEMCR)

Disease Name Non-spherocytic hemolytic anemia due to hexokinase deficiency
Synonyms
hemolytic anemia, nonspherocytic, due to hexokinase deficiency; nonspherocytic hemolytic anemia due to hexokinase deficiency; hexokinase deficiency hemolytic anemia; hexokinase deficiency hemolytic anaemia; nonspherocytic hemolytic anaemia due to hexokinase deficiency; hemolytic anaemia due to hexokinase deficiency; hemolytic anemia due to hexokinase deficiency
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.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DIS0Y78V: Anemia due to erythrocyte enzyme disorder
DIS30PPZ: Disorder of glycolysis
DISTEMCR: Non-spherocytic hemolytic anemia due to hexokinase deficiency
Disease Identifiers
MONDO ID
MONDO_0009340
UMLS CUI
C3150343
OMIM ID
235700
MedGen ID
461693
Orphanet ID
90031

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
HK1 DEDMAGE Strong Autosomal recessive [1]
HK1 DEDMAGE Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HK1 OTMPHE8O Strong Autosomal recessive [1]
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References

1 Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus. Blood. 2002 Sep 1;100(5):1930. doi: 10.1182/blood-2002-05-1599.
2 Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.