Conditions / Genetic
hereditary spherocytosis type 5
info · Genetic
A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2.
Signs and symptoms
- Reticulocytosis
- Splenomegaly
- Jaundice
- Increased red cell osmotic fragility
- Spherocytosis
- Hemolytic anemia
- Abnormal leukocyte count
- Abnormal platelet count
Also known as: HS5; SPH5; hereditary spherocytosis 5