Table 4 Top 5 “open and shut” clinical situations
From: Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
Diagnosis to recall | Clinical situations |
|---|---|
G6PD deficiency | Favism (ingestion of fava beans and hemolysis), Rasburicase induced hemolysis |
Gaucher disease | Hypersplenism and Ashkenazi Jewish decent (1/450 births in this population) [8] |
IRIDA syndrome | Iron deficiency in young patients without an etiology and not responding to iron supplementation |
Porphyria | Cutaneous manifestations and anemia (search for darkening urine after light exposition) |
Wilson disease | Hemolytic anemia with hepatic cytolysis or Parkinsonism, |