Phenotype-genotype corellation in two families with hereditary spherocytosis.
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F23%3A00132996" target="_blank" >RIV/00216224:14740/23:00132996 - isvavai.cz</a>
Výsledek na webu
<a href="https://eshg2018.floq.live/event/eshg2023/search?objectClass=timeslot&objectId=645954e15d10763cee46a78d&type=detail" target="_blank" >https://eshg2018.floq.live/event/eshg2023/search?objectClass=timeslot&objectId=645954e15d10763cee46a78d&type=detail</a>
DOI - Digital Object Identifier
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Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Phenotype-genotype corellation in two families with hereditary spherocytosis.
Popis výsledku v původním jazyce
Hereditary anemias are a heterogenous group of disorders, caused by genetic variants in 70 genes controlling red blood cell production, enzymatic function, membrane structure, as well as production and formation of hemoglobin. The most common hemolytic anemia is hereditary spherocytosis (HS) characterized by spherical-shaped erythrocytes in the peripheral blood smear. HS is clinically manifested by anemia, jaundice and splenomegaly, with variable severity. Here we present two families with HS diagnosis confirmed by molecular genetic analyses. Whole exomes were sequenced (WES) in a cohort of patients suspected of HS disorder. WES results were confirmed by Sanger sequencing.
Název v anglickém jazyce
Phenotype-genotype corellation in two families with hereditary spherocytosis.
Popis výsledku anglicky
Hereditary anemias are a heterogenous group of disorders, caused by genetic variants in 70 genes controlling red blood cell production, enzymatic function, membrane structure, as well as production and formation of hemoglobin. The most common hemolytic anemia is hereditary spherocytosis (HS) characterized by spherical-shaped erythrocytes in the peripheral blood smear. HS is clinically manifested by anemia, jaundice and splenomegaly, with variable severity. Here we present two families with HS diagnosis confirmed by molecular genetic analyses. Whole exomes were sequenced (WES) in a cohort of patients suspected of HS disorder. WES results were confirmed by Sanger sequencing.
Klasifikace
Druh
O - Ostatní výsledky
CEP obor
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OECD FORD obor
30205 - Hematology
Návaznosti výsledku
Projekt
Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Ostatní
Rok uplatnění
2023
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů