24th May 2023

Membranous abnormalities

Hereditary Spherocytosis

Autosomal dominant disorder commonly found in Northern European individuals that affects the vertical linkage between the red blood cell membrane and cytoskeleton. This causes red blood cells (RBC) to lose their elastic deformability and results in the spherocytic shape of the RBC, instead of their characteristic bi-concave shape. The spherocytic shape of the RBC makes it more prone to haemolysis.

Clinical features – include jaundice, splenomegaly, megaloblastic anaemia, or may present as aplastic crisis secondary to Parvovirus B19.

Blood film – spherocytes, Howell-Jowell bodies, polychromasia

Treatment – supportive therapy, including blood transfusions as required, and splenectomy.