has material basis in germline mutation in HK1 congenital nonspherocytic hemolytic anemia non-spherocytic hemolytic anemia due to hexokinase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency https://www.malacards.org/card/anemia_congenital_nonspherocytic_hemolytic_5 Orphanet:90031 UMLS:C3150343 MONDO:0009340 nonspherocytic hemolytic anemia due to hexokinase deficiency 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. anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient GARD:0003672 hexokinase deficiency hemolytic anemia hemolytic anemia, nonspherocytic, due to hexokinase deficiency nonspherocytic hemolytic anaemia due to hexokinase deficiency OMIM:235700 MESH:C562995 hemolytic anaemia due to hexokinase deficiency hemolytic anemia due to hexokinase deficiency MEDGEN:461693 DOID:0051006 hexokinase deficiency hemolytic anaemia disorder of glycolysis anemia due to erythrocyte enzyme disorder