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Characterization of the severe phenotype of pyruvate kinase deficiency

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F20%3AN0000198" target="_blank" >RIV/00098892:_____/20:N0000198 - isvavai.cz</a>

  • Result on the web

    <a href="https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajh.25926" target="_blank" >https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajh.25926</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/ajh.25926" target="_blank" >10.1002/ajh.25926</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Characterization of the severe phenotype of pyruvate kinase deficiency

  • Original language description

    Pyruvate kinase (PK) deficiency is the most common cause of hereditary non-spherocytic hemolytic anemia and is characterized by considerable genotypic heterogeneity, with over 350 documented pathogenic mutations in the PKLR gene.1,2 Clinical manifestations range from a mild, asymptomatic well-compensated anemia to a severe transfusion-dependent hemolytic anemia from birth.3,4 Other complications of PK deficiency include iron overload, pulmonary hypertension, endocrinopathies, liver failure, biliary disease, and extramedullary hematopoiesis, among others.3,4 Splenectomy, a common supportive treatment, may partially ameliorate the anemia and reduce transfusion requirements.5 Hemoglobin concentrations correlate poorly with symptoms in PK deficiency6; therefore, transfusion requirements are typically used to classify disease severity, with those who are regularly transfused (often labeled “transfusion-dependent”) despite splenectomy assumed to be the most severely-affected subgroup. Our understanding of the clinical characteristics of this most severe subgroup is quite limited. Therefore, in this study, we aimed to describe the differences in clinical characteristics and disease complications between regularly transfused splenectomized patients with PK deficiency, and those who were also splenectomized but did not require regular transfusions. As is observed in other hereditary hemolytic anemias, we hypothesized that patients with pyruvate kinase deficiency requiring regular transfusions would have higher rates of disease complications.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30205 - Hematology

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2020

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    American Journal of Hematology

  • ISSN

    0361-8609

  • e-ISSN

    1096-8652

  • Volume of the periodical

    95

  • Issue of the periodical within the volume

    10

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    5

  • Pages from-to

    „E281“- „E285“

  • UT code for WoS article

    000556023800001

  • EID of the result in the Scopus database

    2-s2.0-85089029869