Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

Eduard J van Beers¹, Stephanie van Straaten¹, D Holmes Morton², Wilma Barcellini³, Stefan W Eber⁴, Bertil Glader⁵, Hassan M Yaish⁶, Satheesh Chonat⁷, Janet L Kwiatkowski⁸, Jennifer A Rothman⁹, Mukta Sharma¹⁰, Ellis J Neufeld¹¹, Sujit Sheth¹², Jenny M Despotovic¹³, Nina Kollmar¹⁴, Dagmar Pospíšilová¹⁵, Christine M Knoll¹⁶, Kevin Kuo¹⁷, Yves D Pastore¹⁸, Alexis A Thompson¹⁹, Peter E Newburger²⁰, Yaddanapudi Ravindranath²¹, Winfred C Wang¹¹, Marcin W Wlodarski²², Heng Wang²³, Susanne Holzhauer²⁴, Vicky R Breakey²⁵, Madeleine Verhovsek²⁵, Joachim Kunz²⁶, Melissa A McNaull²⁷, Melissa J Rose²⁸, Heather A Bradeen²⁹, Kathryn Addonizio³⁰, Anran Li³⁰, Hasan Al-Sayegh³⁰, Wendy B London³⁰, Rachael F Grace³¹

Affiliations

¹ Van Creveldkliniek, University Medical Centre Utrecht, University of Utrecht, the Netherlands.
² Central Pennsylvania Clinic for Special Children & Adults, Belleville, PA, USA Lancaster General Hospital, Lancaster, PA, USA.
³ Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
⁴ Schwerpunktpraxis für Pädiatrische Hämatologie-Onkologie and Children's Hospital, Technical University, Munich, Germany.
⁵ Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA, USA.
⁶ Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.
⁷ Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, GA, USA.
⁸ Children's Hospital of Philadelphia and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
⁹ Duke University Medical Center, Durham, NC, USA.
¹⁰ Children's Mercy Hospital, University of Missouri, Kansas City, MO, USA.
¹¹ St. Jude Children's Research Hospital, Memphis, TN, USA.
¹² Weill Cornell Medical College, New York Presbyterian Hospital, NY, USA.
¹³ Texas Children's Hematology Center, Baylor College of Medicine, Houston, TX, USA.
¹⁴ Klinikum Kassel GmbH, Germany.
¹⁵ Fakultni nemocnice Olomouc, Czech Republic.
¹⁶ Phoenix Children's Hospital, AZ, USA.
¹⁷ University of Toronto, University Health Network, ON, Canada.
¹⁸ CHU Sainte-Justine, Montreal, QC, Canada.
¹⁹ Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
²⁰ University of Massachusetts Medical School, Worcester, MA, USA.
²¹ Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI, USA.
²² Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany.
²³ DDC Clinic for Special Needs Children, Middlefield, OH, USA.
²⁴ Charite, Berlin, Germany.
²⁵ McMaster University, Hamilton, ON, Canada.
²⁶ Zentrum für Kinder-und Jugendmedizin,University of Heidelberg, Heidelberg, Germany.
²⁷ University of Mississippi Medical Center, Jackson, MS, USA.
²⁸ Nationwide Children's Hospital,The Ohio State University College of Medicine, Columbus, OH, USA.
²⁹ The University of Vermont Children's Hospital, Burlington, VT, USA.
³⁰ Dana-Farber Boston Children's Cancer and Blood Disorder Center, Boston, MA, USA.
³¹ Dana-Farber Boston Children's Cancer and Blood Disorder Center, Boston, MA, USA rachael.grace@childrens.harvard.edu.

PMID: 30213831
PMCID: PMC6355506
DOI: 10.3324/haematol.2018.196295

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

Eduard J van Beers et al. Haematologica. 2019 Feb.

. 2019 Feb;104(2):e51-e53.

doi: 10.3324/haematol.2018.196295. Epub 2018 Sep 13.

Authors

Affiliations

¹ Van Creveldkliniek, University Medical Centre Utrecht, University of Utrecht, the Netherlands.
² Central Pennsylvania Clinic for Special Children & Adults, Belleville, PA, USA Lancaster General Hospital, Lancaster, PA, USA.
³ Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
⁴ Schwerpunktpraxis für Pädiatrische Hämatologie-Onkologie and Children's Hospital, Technical University, Munich, Germany.
⁵ Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA, USA.
⁶ Primary Children's Hospital, University of Utah, Salt Lake City, UT, USA.
⁷ Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, GA, USA.
⁸ Children's Hospital of Philadelphia and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
⁹ Duke University Medical Center, Durham, NC, USA.
¹⁰ Children's Mercy Hospital, University of Missouri, Kansas City, MO, USA.
¹¹ St. Jude Children's Research Hospital, Memphis, TN, USA.
¹² Weill Cornell Medical College, New York Presbyterian Hospital, NY, USA.
¹³ Texas Children's Hematology Center, Baylor College of Medicine, Houston, TX, USA.
¹⁴ Klinikum Kassel GmbH, Germany.
¹⁵ Fakultni nemocnice Olomouc, Czech Republic.
¹⁶ Phoenix Children's Hospital, AZ, USA.
¹⁷ University of Toronto, University Health Network, ON, Canada.
¹⁸ CHU Sainte-Justine, Montreal, QC, Canada.
¹⁹ Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
²⁰ University of Massachusetts Medical School, Worcester, MA, USA.
²¹ Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI, USA.
²² Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany.
²³ DDC Clinic for Special Needs Children, Middlefield, OH, USA.
²⁴ Charite, Berlin, Germany.
²⁵ McMaster University, Hamilton, ON, Canada.
²⁶ Zentrum für Kinder-und Jugendmedizin,University of Heidelberg, Heidelberg, Germany.
²⁷ University of Mississippi Medical Center, Jackson, MS, USA.
²⁸ Nationwide Children's Hospital,The Ohio State University College of Medicine, Columbus, OH, USA.
²⁹ The University of Vermont Children's Hospital, Burlington, VT, USA.
³⁰ Dana-Farber Boston Children's Cancer and Blood Disorder Center, Boston, MA, USA.
³¹ Dana-Farber Boston Children's Cancer and Blood Disorder Center, Boston, MA, USA rachael.grace@childrens.harvard.edu.

PMID: 30213831
PMCID: PMC6355506
DOI: 10.3324/haematol.2018.196295

No abstract available

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Figures

**Figure 1.**
Correlation between ferritin and liver iron concentration (LIC) as measured by magnetic resonance imaging. Correlation between ferritin and LIC (r=0.45, P<0.0001; n=45). Gray circles indicate individuals with a median ferritin <1000 ng/mL but an LIC >3 mg/g dry weight liver.

See this image and copyright information in PMC

References

1. Grace RF, Zanella A, Neufeld EJ, et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825–830. - PMC - PubMed
1. Grace RF, Bianchi P, van Beers EJ, et al. The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018;131(20):2183–2192. - PubMed
1. Brittenham GM. Iron-chelating therapy for transfusional iron overload. N Engl J Med. 2011;364(2):146–156. - PMC - PubMed
1. Saliba AN, Harb AR, Taher AT. Iron chelation therapy in transfusion-dependent thalassemia patients: current strategies and future directions. J Blood Med. 2015;6:197–209. - PMC - PubMed
1. Origa R, Galanello R, Ganz T, et al. Liver iron concentrations and urinary hepcidin in beta-thalassemia. Haematologica. 2007;92(5):583–588. - PubMed

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Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

Affiliations

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

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Affiliations

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References

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Medical