2023
Phenotype-genotype corellation in two families with hereditary spherocytosis.
VRZALOVÁ, Zuzana, Lenka RADOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Ivona BLAHÁKOVÁ et. al.Basic information
Original name
Phenotype-genotype corellation in two families with hereditary spherocytosis.
Authors
VRZALOVÁ, Zuzana (203 Czech Republic, belonging to the institution), Lenka RADOVÁ (203 Czech Republic, belonging to the institution), Kateřina STAŇO KOZUBÍK (203 Czech Republic, belonging to the institution), Jiří ŠTIKA (203 Czech Republic, belonging to the institution), Ivona BLAHÁKOVÁ (203 Czech Republic, belonging to the institution), Jakub TRIZULJAK (703 Slovakia, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, belonging to the institution), H. HALÁMOVÁ and Michael DOUBEK (203 Czech Republic, guarantor, belonging to the institution)
Edition
European Human Genetics Conference (ESHG), Glasgow, United Kingdom, 2023
Other information
Language
English
Type of outcome
Conference abstract
Field of Study
30205 Hematology
Country of publisher
United Kingdom of Great Britain and Northern Ireland
Confidentiality degree
is not subject to a state or trade secret
References:
RIV identification code
RIV/00216224:14740/23:00132996
Organization unit
Central European Institute of Technology
Keywords in English
hemolytic anemia; hereditary spherocytosis; Sanger sequencing
Tags
Tags
International impact, Reviewed
Changed: 25/3/2024 11:35, Mgr. Eva Dubská
Abstract
V originále
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.
Links
| LX22NPO5102, research and development project |
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| MUNI/A/1224/2022, interní kód MU |
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| NU20-08-00137, research and development project |
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| NU22-03-00210, research and development project |
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