[Recurrent hemolysis and iron overload of unclear origin].

Abstract

The case of a 33-year-old male with recurrent icterus and hemolysis since childhood that was long mistaken for Gilbert disease is presented. Subsequently, the patient also developed splenomegaly and gallstones together with iron overload. Genetic testing revealed the diagnosis of hereditary xerocytosis, which is an erythrocyte membrane disorder causing recurrent hemolysis. Xerocytosis is often challenging to diagnose and the frequency of the condition might be underestimated as there are often no typical findings in the microscopic differential blood count, and Eosin-5-maleimide dye (EMA) test, which is used to diagnose other erythrocyte membrane disorders, is normal. In cases of splenomegaly, iron overload and recurrent hemolysis, or in the case of a clinical diagnosis of Gilbert disease together with one of the above-mentioned symptoms, further investigations and possibly also genetic testing should be considered.