Hereditary spherocytosis in a young male. Report of an unusual case
Journal Title: Αρχεία Ελληνικής Ιατρικής - Year 2011, Vol 28, Issue 6
Abstract
Hereditary spherocytosis (HS) is the most frequent form of red blood cell membrane disorder and the most common cause of chronic hereditary hemolytic anemia. The etiology of the disease is a deficiency in the membrane proteins which results in instability of the cytoskeleton. The case is presented of a 32-year-old man who was admitted with pain in the right hypochondrium, jaundice and hyperpigmentation of the urine. HS due to protein-3 deficiency was diagnosed and the clinical syndrome at admission was attributed to bile duct obstruction. The laboratory methods which determine the diagnosis of HS are discussed and reference is made to the therapeutic management of the patients. The search for HS should not be omitted in the investigation of chronic hemolysis, because of the variety of clinical manifestations of the disease, which may remain asymptomatic and undetected even in old age.
Authors and Affiliations
T. KANELLOPOULOU, F. KONTOPIDOU, S. DOURAKIS
Keywords
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