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

• 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
• Web: http://www.haematologica.org/content/haematol/99/7/e118.full.pdf
• Doi: http://dx.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.

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