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Congenital polycythemias


Authors: J. Kučerová 1;  M. Horváthová 1;  D. Pospíšilová 2;  V. Divoký 1,3
Authors‘ workplace: Ústav biologie LF UP v Olomouci, 2Dětská klinika LF UP a FN v Olomouci, 3HOK FN v Olomouci 1
Published in: Transfuze Hematol. dnes,15, 2009, No. 4, p. 216-222.
Category: Comprehensive Reports, Original Papers, Case Reports

Overview

Polycythemia is a condition characterized by increased erythrocyte mass, accompanied by elevated hematocrit, red blood cell count and increased concentration of hemoglobin. Polycythemia may result from increased proliferation or decreased apoptosis of erythroid progenitors, and eventually from delayed erythroid differentiation. In congenital primary polycythemia this is caused by inherited defect in hypoxia sensing or response of hematopoietic progenitors to erythroid growth factors. In congenital secondary polycythemia, resulting from elevated circulating erythropoietic factors, this is mostly due to inherited defect causing high affinity of hemoglobin for oxygen. Biochemical, cellular and molecular biology tests are important for evaluation of polycythemia type and differential diagnostics. Our laboratories at Faculty of Medicine Palacky University and University Hospital in Olomouc have a long-term tradition in congenital polycythemia research. With the identification of several new mutations causing congenital polycythemia and construction of mouse model of familial polycythemia with dominant inheritance we have contributed to better understanding of molecular pathophysiology of this disease. Identification of causative mutations facilitates better and more accurate diagnostics and can even contribute considerably to development of new therapeutic approaches.

Key words:
congenital polycythemia, HIF pathway, EPOR pathway, hypersensitivity to erythropoietin


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