Conditions / Genetic
hereditary spherocytosis type 1
info · Genetic
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.
Signs and symptoms
- Hyperbilirubinemia
- Hemolytic anemia
- Reticulocytosis
- Spherocytosis
- Jaundice
- Increased red cell osmotic fragility
- Cholelithiasis
- Splenomegaly
Also known as: HS1; SPH1; hereditary spherocytosis 1