Evidence map›Paper›PMID 42115487›Full record

ArticleAnnals of hematology2026

Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.

Oliver Sakalian, Yoann Huguenin, Serge Pissard, Vanessa Augis, Laurent Weinmann, Valérie Fuster, Marie Lagarde, Elise Badour, Nathalie Aladjidi, Julian Boutin and 1 more

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In one paragraph

Article in Annals of hematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Oliver SakalianHematology Laboratory, University Hospital of Bordeaux, Bordeaux, France. oliver.sakalian@chu-bordeaux.fr.
Yoann HugueninCompetence Centre for Inherited Bleeding Disorders, University Hospital of Bordeaux, Bordeaux, France.
Serge PissardBiochemistry and Genetics Laboratory, APHP-University Hospital Henri Mondor and Inserm IMRB U955eq2, Creteil, France.
Vanessa AugisHematology Laboratory, University Hospital of Bordeaux, Bordeaux, France.
Laurent WeinmannHematology Laboratory, University Hospital of Bordeaux, Bordeaux, France.
Valérie FusterHematology Laboratory, University Hospital of Bordeaux, Bordeaux, France.
Marie LagardeDepartment of Pediatrics, University Hospital of Bordeaux, Bordeaux, France.
Elise BadourDepartment of Pediatrics, Bayonne Hospital, Bayonne, France.
Nathalie AladjidiDepartment of Pediatrics, University Hospital of Bordeaux, Bordeaux, France.
Julian Boutin *Biochemistry Laboratory, University Hospital of Bordeaux, Bordeaux, France.
Stéphanie Dulucq *Hematology Laboratory, University Hospital of Bordeaux, Bordeaux, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Diagnosing neonatal pyruvate kinase (PK) deficiency is challenging, especially when early transfusions render conventional testing inconclusive. Genetic testing, however, is not influenced by transfusions and can provide, in most cases, a definitive diagnosis. We report two unrelated infants with symptomatic PK deficiency, both compound heterozygous for PKLR mutations, including two undescribed missense variants (c.865C>T; p.(Arg289Trp) and c.1016A>G; p.(Asp339Gly)). These cases underscore the critical role of molecular testing -particularly hereditary hemolytic anemia next-generation sequencing (NGS) panels-in confirming the diagnosis when enzymatic assays are unfeasible, further shortening time to diagnosis in congenital hemolytic anemias.

Indexed as

Anemia, Hemolytic, Congenital NonspherocyticMutation, MissensePyruvate KinasePyruvate Metabolism, Inborn ErrorsHumansInfant, NewbornMaleMutationPKLR protein, humanPyruvate KinaseGeneticsNeonatal HemolysisPK deficiencySequencing

Identifiers

PMID42115487
PMCPMC13333555

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.