non-spherocytic 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.
MONDO:0006506
congenital nonspherocytic hemolytic anemia
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MONDO:0017688
disorder of glycolysis
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MONDO:0020585
anemia due to erythrocyte enzyme disorder
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anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient
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hemolytic anaemia due to hexokinase deficiency
exact
hemolytic anemia due to hexokinase deficiency
exact
hemolytic anemia, nonspherocytic, due to hexokinase deficiency
exact
hexokinase deficiency hemolytic anaemia
related
hexokinase deficiency hemolytic anemia
related
nonspherocytic hemolytic anaemia due to hexokinase deficiency
exact
nonspherocytic hemolytic anemia due to hexokinase deficiency
exact
SPAC24H6.04 SPAC4F8.07c