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Am J Hematol. 2015 Sep;90(9):825-30. doi: 10.1002/ajh.24088. Epub 2015 Aug 14.

Erythrocyte pyruvate kinase deficiency: 2015 status report.

Author information

1
Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, Massachusetts.
2
Fondazione IRCCS Ca'Granda, Ospedale Maggiore Policlinico, Milan, Italy.
3
Clinic for Special Children, Lancaster General Hospital, Lancaster, Pennsylvania.
4
Schwerpunktpraxis Für Pädiatrische Hämatologie and Hämostaseologie, and Children's Hospital of the Technical University, Munich, Germany.
5
Primary Children's Hospital, University of Utah, Salt Lake City, Utah.
6
Department, of Pediatrics and Pathology, Stanford University, Lucile Packard Children's Hospital, Palo Alto, California.

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.

PMID:
26087744
PMCID:
PMC5053227
DOI:
10.1002/ajh.24088
[Indexed for MEDLINE]
Free PMC Article

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