Phenotype-genotype corellation in two families with hereditary spherocytosis.

Result code in 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>
Result on the web
<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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Result language
angličtina
Original language name
Phenotype-genotype corellation in two families with hereditary spherocytosis.
Original language description
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.
Czech name
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Czech description
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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