Přehled o publikaci
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; Lenka RADOVÁ; Kateřina STAŇO KOZUBÍK; Jiří ŠTIKA; Ivona BLAHÁKOVÁ; Jakub TRIZULJAK; Šárka POSPÍŠILOVÁ; H. HALÁMOVÁ and Michael DOUBEK
Edition
European Human Genetics Conference (ESHG), Glasgow, United Kingdom, 2023
Other information
Language
English
Type of outcome
Konferenční abstrakta
Country of publisher
United Kingdom of Great Britain and Northern Ireland
Confidentiality degree
is not subject to a state or trade secret
Marked to be transferred to RIV
Yes
RIV identification code
RIV/00216224:14740/23:00132996
Organization
Středoevropský technologický institut – Repository – Repository
Keywords in English
hemolytic anemia; hereditary spherocytosis; Sanger sequencing
Links
MUNI/A/1224/2022, interní kód Repo. NU20-08-00137, research and development project. NU22-03-00210, research and development project.
Changed: 23/12/2025 00:51, RNDr. Daniel Jakubík
Abstract
In the original language
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.
