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Comment
. 2018 May 17;131(20):2179-2180.
doi: 10.1182/blood-2018-04-840827.

Function and dysfunction

Narla Mohandas  1
Affiliations
Comment

Function and dysfunction

Narla Mohandas. Blood. .

Abstract

In this issue of Blood, Grace et al characterize the clinical manifestations, disease complications, and response to treatment of 278 patients with pyruvate kinase (PK) deficiency from a 5-country longitudinal natural history study. The availability of such a large genetic and clinical data set of patients with this rare red cell disorder will allow for more robust genotype–phenotype correlations and guide the development of future therapeutic strategies.

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Conflict of interest statement

Conflict-of-interest disclosure: The author declares no competing financial interests.

Comment on

  • Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
    Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Grace RF, et al. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16. Blood. 2018. PMID: 29549173

References

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    1. Beutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood. 2000;95(11):3585-3588. - PubMed

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