Genetics and management of hereditary spherocytosis
In a Basic Science-in-Focus session Dr. Patrick Gallagher (Yale University School of Medicine, New Haven, USA) focused on the inheritance, presentation and diagnosis of hereditary spherocytosis (HS).
“Reliable diagnosis of HS is important as it guides appropriate therapy and anticipates and prevents complications.” HS-causing mutations are heterogeneous and de novo mutations are common.
Typical HS-associated mutations are in ankyrin, band 3 and beta-spectrin. In recessive HS and alfa-spectrin-linked disease, mutations are frequently associated with null alleles or missense mutations, predicted to be damaging. Gallagher discussed current management strategies for HS, including the risks of splenectomy.
“When necessary, a broad array of strategies should be utilized to diagnose HS patients, and splenectomy should not be considered a routine procedure, no matter the indication, as it is associated with many risks.”