Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency

• Autoři: POSPÍŠILOVÁ Dagmar; HOLUB D.; ZIDOVA Z.; SULOVSKA L.; HOUDA J.; MIHAL V.; HADACOVA I.; RADOVÁ Lenka; DZUBAK P.; HAJDÚCH Marian; DIVOKÝ Vladimír; HORVATHOVA M.
• Rok publikování: 2014
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Haematologica
• Fakulta / Pracoviště MU: Středoevropský technologický institut
• www: http://www.haematologica.org/content/haematol/99/7/e118.full.pdf
• Doi: http://dx.doi.org/10.3324/haematol.2014.104034
• Obor: Onkologie a hematologie
• Klíčová slova: Diamond Blackfan anemia; hepcidin levels; erythropoietic activity; transfusion dependency
• Popis: Diamond-Blackfan anemia (DBA) is a rare congenital red cell aplasia associated with mutations in ribosomal proteins (RP) in 49-71% of cases.1 DBA is a clinically heterogeneous disorder with one-third of patients developing transfusion-acquired iron overload.2 The severity of anemia and transfusion dependency in DBA is comparable to transfusiondependent beta-thalassemia major; however, moderate to severe suppression of erythropoiesis in DBA2 is in contrast to accelerated ineffective erythropoiesis in beta-thalassemia.3,4 The knowledge of systemic iron regulation in DBA is limited.

Související projekty

• NGS-PTL - Next Generation Sequencing platform for targeted Personalized Therapy of Leukemia