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A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency with Normal Iron Status: a Case Report.

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dc.abstract.enBackground: Red cell pyruvate kinase deficiency (PKD) is a defect of glycolysis causing congenital non-spherocytic hemolytic anemia. PKD is transmitted as an autosomal recessive trait. The clinical features of PKD are highly variable, from mild to life-threatening anemia which can lead to death in the neonatal period. Most patients with PKD must receive regular transfusions in early childhood and as a consequence suffer from iron overloading. Patient: Here, we report a Polish family with life-threatening hemolytic anemia of unknown etiology. Whole exome sequencing identified two heterozygous mutations, c.1529 G > A (p.R510Q) and c.1495 T > C (p.S499P) in the PKLR gene. Molecular modeling showed that the both PKLR mutations are responsible for major disturbance of the protein structure and functioning. Despite frequent transfusions the patients do not show any signs of iron overload and hepcidin, a major regulator of iron uptake, is undetectable in their serum. The patients were homozygous for the rs855791 variant of the TMPRSS6 gene which has earlier been shown to down-regulate iron absorption and accumulation. Conclusion: The lack of iron overload despite a reduced level of hepcidin in two transfusion-dependent PKD patients suggests the existence of a hepcidin-independent mechanism of iron regulation preventing iron overloading.
dc.affiliationUniwersytet Warszawski
dc.contributor.authorAdamowicz-Salach, Anna
dc.contributor.authorPoznański, Jarosław
dc.contributor.authorGóra, Monika
dc.contributor.authorBurzyńska, Beata
dc.contributor.authorMaciak, Karolina
dc.contributor.authorFronk, Jan
dc.date.accessioned2024-01-24T17:35:17Z
dc.date.available2024-01-24T17:35:17Z
dc.date.copyright2020-10-28
dc.date.issued2020
dc.description.accesstimeAT_PUBLICATION
dc.description.financePublikacja bezkosztowa
dc.description.versionFINAL_PUBLISHED
dc.description.volume11
dc.identifier.doi10.3389/FGENE.2020.560248
dc.identifier.issn1664-8021
dc.identifier.urihttps://repozytorium.uw.edu.pl//handle/item/101535
dc.identifier.weblinkhttps://www.frontiersin.org/articles/10.3389/fgene.2020.560248/full
dc.languageeng
dc.pbn.affiliationbiological sciences
dc.relation.ispartofFrontiers in Genetics
dc.relation.pages560248 (1-6)
dc.rightsCC-BY
dc.sciencecloudnosend
dc.subject.encongenital non-spherocytic hemolytic anemia,
dc.subject.enpyruvate kinase deficiency,
dc.subject.eniron metabolism,
dc.subject.enhepcidin,
dc.subject.enTMPRSS6 (matriptase-2)
dc.titleA Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency with Normal Iron Status: a Case Report.
dc.typeJournalArticle
dspace.entity.typePublication