Browsing by Subject 

Browsing by Subject "Anemia sideroblástica congénita"

Now showing items 1-2 of 2

    • Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia 

      Kannengiesser, Caroline; Sanchez-Fernandez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; Moran, Erica; Fuster Soler, Jose L.; Maloum, Karim; Matthes, Thomas; OUDOT, Caroline; Lascaux, Axelle; Pondarré, Corinne; Sevilla Navarro, Julian; Vidyatilake, Sudharma; Beaumont, Carole; grandchamp, bernard; May, Alison (Haematologica, 2011)
      Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a ...

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

      Jové Solavera, Daniel; Rámila, Marta; Ferrer, Xènia; Olivella, Mireia; Venturi, Veronica; Morado, Marta; Hernández-Rodríguez, Ines; Khan, Aneal; Pérez-Montero, Santiago; Tornador, Cristian; Germing, Ulrich; Gattermann, Norbert; Sanchez-Fernandez, Mayka (Scientific Reports, 2025)
      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. ...