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