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.

Also known as: anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient, hemolytic anaemia due to hexokinase deficiency, hemolytic anemia due to hexokinase deficiency, hemolytic anemia, nonspherocytic, due to hexokinase deficiency, nonspherocytic hemolytic anaemia due to hexokinase deficiency, nonspherocytic hemolytic anemia due to hexokinase deficiency, hexokinase deficiency hemolytic anaemia, hexokinase deficiency hemolytic anemia

20 clinical trials for this condition and its sub-types.