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. Author manuscript; available in PMC: 2024 May 12.
Published in final edited form as: Trends Mol Med. 2023 Mar 17;29(5):406–418. doi: 10.1016/j.molmed.2023.02.005

Figure 2. Diagnostic algorithm for the work-up of suspected congenital hemolytic anemia.

Figure 2.

This algorithm shows an approach to the evaluation of a suspected congenital hemolytic anemia. In general, a thorough history and physical exam should be completed. Laboratory testing should evaluate for evidence of hemolysis and include an evaluation of the red cells’ morphology on the peripheral blood film. Acquired causes of hemolytic diseases should be excluded, and a full differential diagnosis for congenital hemolytic anemias should be considered. Pyruvate kinase deficiency should be suspected as a cause of congenital hemolytic anemia after more common causes are excluded, and then testing should include pyruvate kinase activity levels and PKLR genetic testing. Abbreviations: LDH: lactate dehydrogenase; AIHA: autoimmune hemolytic anemia; DAT: direct antiglobulin test; PNH: paroxysmal nocturnal hemoglobinuria; HPLC: high-performance liquid chromatography; EMA: eosin-5′-maleimide; PK: pyruvate kinase; PKD: pyruvate kinase deficiency.