Old and new insights into the diagnosis of hereditary spherocytosis

Ann Transl Med. 2018 Sep;6(17):339. doi: 10.21037/atm.2018.07.35.

Abstract

Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide.

Keywords: Complete blood count (CBC); ektacytometry; eosin-5’-maleimide; hereditary spherocytosis (HS).

Publication types

  • Review