Conditions / Genetic
hereditary spherocytosis type 2
info · Genetic
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3.
Signs and symptoms
- Increased red cell osmotic fragility
- Spherocytosis
- Hyperbilirubinemia
- Acanthocytosis
- Hemolytic anemia
- Reticulocytosis
- Jaundice
- Splenomegaly
Also known as: HS2; SPH2; hereditary spherocytosis 2