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

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Authors	POSPÍŠILOVÁ Dagmar HOLUB D. ZIDOVA Z. SULOVSKA L. HOUDA J. MIHAL V. HADACOVA I. RADOVÁ Lenka DZUBAK P. HAJDÚCH Marian DIVOKÝ Vladimír HORVATHOVA M.
Year of publication	2014
Type	Article in Periodical
Magazine / Source	Haematologica
MU Faculty or unit	Central European Institute of Technology
Citation
web	http://www.haematologica.org/content/haematol/99/7/e118.full.pdf
Doi	https://doi.org/10.3324/haematol.2014.104034
Field	Oncology and hematology
Keywords	Diamond Blackfan anemia; hepcidin levels; erythropoietic activity; transfusion dependency
Description	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.
Related projects:	NGS-PTL - Next Generation Sequencing platform for targeted Personalized Therapy of Leukemia