Conditions / Genetic
hereditary spherocytosis type 4
info · Genetic
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31.
Signs and symptoms
- Increased red cell osmotic fragility
- Spherocytosis
- Hemolytic anemia
- Reticulocytosis
- Splenomegaly
- Hyperbilirubinemia
- Jaundice
Also known as: HS4; SPH4; hereditary spherocytosis 4