The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation

Abstract X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase. This enzyme, which requires pyridoxal 5’-phosphate (PLP) as a cofactor, catalyzes the fir...

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Main Authors: Daniel Jové-Solavera, Marta Rámila, Xènia Ferrer-Cortés, Mireia Olivella, Veronica Venturi, Marta Morado, Ines Hernández-Rodríguez, Aneal Khan, Santiago Pérez-Montero, Cristian Tornador, Ulrich Germing, Norbert Gattermann, Mayka Sanchez
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Subjects:
ALAS2
X-linked sideroblastic anemia
Congenital sideroblastic anemia
Hereditary anemia
Ring sideroblasts
Stop-loss mutation
Online Access:https://doi.org/10.1038/s41598-025-95590-x
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https://doi.org/10.1038/s41598-025-95590-x

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