Conditions / Genetic
congenital nonspherocytic hemolytic anemia 5
info · Genetic
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22.
Signs and symptoms
- Jaundice
- Reduced erythrocyte hexokinase activity
- Nonspherocytic hemolytic anemia
- Hyperbilirubinemia
- Cholelithiasis
- Cholecystitis
- Reticulocytosis
- Normochromic anemia
- Splenomegaly
- Normocytic anemia