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Genetic basis of congenital erythrocytosis: mutation update and online databases. 2014
Celeste Bento, and
Melanie J Percy, and
Betty Gardie, and
Tabita Magalhães Maia, and
Richard van Wijk, and
Silverio Perrotta, and
Fulvio Della Ragione, and
Helena Almeida, and
Cedric Rossi, and
François Girodon, and
Maria Aström, and
Drorit Neumann, and
Susanne Schnittger, and
Britta Landin, and
Milen Minkov, and
Maria Luigia Randi, and
Stéphane Richard, and
Nicole Casadevall, and
William Vainchenker, and
Susana Rives, and
Sylvie Hermouet, and
M Leticia Ribeiro, and
Mary Frances McMullin, and
Holger Cario, and
, and
Aurelie Chauveau, and
Anne-Paule Gimenez-Roqueplo, and
Brigitte Bressac-de-Paillerets, and
Didem Altindirek, and
Felipe Lorenzo, and
Frederic Lambert, and
Harlev Dan, and
Sophie Gad-Lapiteau, and
Ana Catarina Oliveira, and
Cédric Rossi, and
Cristina Fraga, and
Gennadiy Taradin, and
Guillermo Martin-Nuñez, and
Helena Vitória, and
Herrera Diaz Aguado, and
Jan Palmblad, and
Julia Vidán, and
Luis Relvas, and
Maria Leticia Ribeiro, and
Maria Luigi Larocca, and
Maria Luigia Randi, and
Maria Pedro Silveira, and
Melanie Percy, and
Mor Gross, and
Ricardo Marques da Costa, and
Soheir Beshara, and
Tal Ben-Ami, and
Valérie Ugo, and
Department of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor gene (EPOR). Secondary CE arises from conditions causing tissue hypoxia and results in increased Epo production. These include hemoglobin variants with increased affinity for oxygen (HBB, HBA mutations), decreased production of 2,3-bisphosphoglycerate due to BPGM mutations, or mutations in the genes involved in the hypoxia sensing pathway (VHL, EPAS1, and EGLN1). Depending on the affected gene, CE can be inherited either in an autosomal dominant or recessive mode, with sporadic cases arising de novo. Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing on the registration of clinical history, hematological, biochemical, and molecular data (http://www.erythrocytosis.org/). In addition, unreported mutations are also curated in the corresponding Leiden Open Variation Database.
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