/non-spherocytic hemolytic anemia due to hexokinase deficiency

non-spherocytic hemolytic anemia due to hexokinase deficiency

Rare Disease

MONDO:0009340

Also Known As

anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficienthemolytic anaemia due to hexokinase deficiencyhemolytic anemia due to hexokinase deficiencyhemolytic anemia, nonspherocytic, due to hexokinase deficiencynonspherocytic hemolytic anaemia due to hexokinase deficiencynonspherocytic hemolytic anemia due to hexokinase deficiencyhexokinase deficiency hemolytic anaemiahexokinase deficiency hemolytic anemia

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.