Hematology Case Study - Pyruvate Kinase Deficiency

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This patient (see PDF), being seen in the Hematology/Oncology clinic, is known to have pyruvate kinase deffciency (PKD). Pyruvate kinase is an enzyme present in RBCs that is required for ATP generation within the cells. The ATP produced serves as the energy source for the mature, non-nucleated red cells.

Deficiency of pyruvate kinase produces compromised RBC membranes that cannot effectively regulate intracellular potassium and sodium concentrations. As a consequence, the patient’s red cells dehydrate and are destroyed in vivo, causing a hemolytic anemia.

This patient‘s CBC shows the typical hemolytic picture: red blood cell fragments, dramatically increased reticulocyte count, nucleated RBCs, and severe anemia. The fluorescent platelet (PLT-F) channel on the XN analyzer is useful in obtaining an accurate platelet count in the presence of the fragmented red cells. Furthermore, the RET(EXT) scattergram shows the Upper Particle Plateau (UPP) region, which contains cells with slightly more nucleic acids than the reticulocytes—in this case, the NRBCs. Dilution of the sample with CELLPACKTM DCL may be able to yield a more accurate retic count. Refer to the XN-Series™ Flagging Interpretation Guide for more information on sample handling in the presence of the “RET Abnormal Scattergram” flag.

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