Phenotype-genotype corellation in two families with hereditary spherocytosis.
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| Year of publication | 2023 |
| Type | Conference abstract |
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| 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. |
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