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Erythrocyte pyruvate kinase deficiency: 2015 status report AMERICAN JOURNAL OF HEMATOLOGY Grace, R. F., Zanella, A., Neufeld, E. J., Morton, D. H., Eber, S., Yaish, H., Glader, B. 2015; 90 (9): 825-830

Abstract

Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and monitoring. Treatment remains supportive with phototherapy and/or exchange transfusion in the newborn period, regular or intermittent red cell transfusions in children and adults, and splenectomy to decrease transfusion requirements and/or anemia related symptoms. In this article, we review the clinical diversity of PKD, the current standard of treatment and for supportive care, the complications observed, and future treatment directions.

View details for DOI 10.1002/ajh.24088

View details for Web of Science ID 000360218000027

View details for PubMedCentralID PMC5053227