Hemolytic Anemia Due to Hexokinase Deficiency malady
Categories: Genetic diseases, Rare diseases, Blood diseases
Aliases & Descriptions for Hemolytic Anemia Due to Hexokinase Deficiency:
Orphanet epidemiological data:52
non-spherocytic hemolytic anemia due to hexokinase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases
Rare haematological diseases
NIH Rare Diseases:46 Nonspherocytic hemolytic anemia due to hexokinase deficiency (nsha due to hk1 deficiency) is a very rare condition mainly 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. it can 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. last updated: 2/1/2013
MalaCards based summary: Hemolytic Anemia Due to Hexokinase Deficiency, also known as hexokinase deficiency hemolytic anemia, is related to hemolytic anemia and congenital hemolytic anemia, and has symptoms including jaundice, cholelithiasis and cholecystitis. An important gene associated with Hemolytic Anemia Due to Hexokinase Deficiency is HK1 (Hexokinase 1).
OMIM:50 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary... (235700) more...
UniProtKB/Swiss-Prot:68 Hexokinase deficiency: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.
Diseases related to Hemolytic Anemia Due to Hexokinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Hemolytic Anemia Due to Hexokinase Deficiency:(show all 9)
Articles related to Hemolytic Anemia Due to Hexokinase Deficiency:
UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia Due to Hexokinase Deficiency:68
Clinvar genetic disease variations for Hemolytic Anemia Due to Hexokinase Deficiency:5
Search GEO for disease gene expression data for Hemolytic Anemia Due to Hexokinase Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet