Caso contributivo
Un’emolisi ben mascherata
Hidden haemolysis
Giovanni Del Borrello
Scuola di Specializzazione in Pediatria, Università di Torino
Giugno 2018
Abstract
Chronic haemolytic anaemia is a pathophysiological process that can be the expression of many possible etiologies (e.g. a congenital defect of a membrane protein, immune-mediated destruction, enzymopathies, altered erythrocyte development). The paper presents the case of an adolescent girl that showed many hallmark clinical signs and haematologic features of a chronic haemolytic anaemia, without any spherocyte seen on the blood film. After excluding other possible explanations, a bone marrow aspirate was performed and the diagnosis of Congenital Dyserythropoietic Anaemia type 2 (CDA2) was made. CDA2 is a rare kind of non-spherocytic chronic haemolytic anaemia characterised by minimal haematological responsiveness to splenectomy and increased tendency towards iron accumulation.
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