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  • Bento, CelesteDepartment of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal (author)

Genetic Basis of Congenital Erythrocytosis : Mutation Update and Online Databases

  • Article/chapterEnglish2014

Publisher, publication year, extent ...

  • 2013-10-22
  • Wiley-Blackwell,2014
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:oru-38736
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-38736URI
  • https://doi.org/10.1002/humu.22448DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:128070834URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing on the registration of clinical history, hematological,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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  • Percy, Melanie J.Department of Haematology, Belfast City Hospital, Belfast, United Kingdom (author)
  • Gardie, BettyUnité Mixte de Recherche (UMR) 892 Inserm - 6299 CNRS, Université de Nantes, Nantes, France; Laboratoire de Génétique Oncologique de l'Ecole Pratique des Hautes Etudes (EPHE), INSERM U753, Institut de cancérologie Gustave Roussy, Villejuif, France (author)
  • Maia, Tabita MagalhaesDepartment of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal (author)
  • van Wijk, RichardDepartment of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, Netherlands (author)
  • Perrotta, SilverioDipartimento della Donna, Del Bambino e di Chirurgia Generale e Specialistica, Second University of Naples, Naples, Italy (author)
  • Della Ragione, FulvioDepartment of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples, Italy (author)
  • Almeida, HelenaDepartment of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal (author)
  • Rossi, CedricLaboratoire d'Hématologie, Centre Hospitalier Universitaire Dijon, Dijon, France (author)
  • Girodon, FrancoisLaboratoire d'Hématologie, Centre Hospitalier Universitaire Dijon, Dijon, France (author)
  • Åström, Maria,1959-Region Örebro län,Departments of Medicine and Laboratory Medicine(Swepub:oru)mram (author)
  • Neumann, DroritDepartment of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel-Aviv University, Ramat-Aviv, Israel (author)
  • Schnittger, SusanneMunich Leukemia Laboratory (MLL), Munich, Germany (author)
  • Landin, BrittaDepartment of Clinical Chemistry, Karolinska University Hospital, Stockholm, Sweden (author)
  • Minkov, MilenDepartment of Hematology/Oncology, St. Anna Children's Hospital, Medical University of Vienna, Vienna, Austria (author)
  • Randi, Maria LuigiaDepartment of Medicine DIMED, University of Padua, Padua, Italy (author)
  • Richard, StephaneLaboratoire de Génétique Oncologique de l'Ecole Pratique des Hautes Etudes (EPHE), INSERM U753, Institut de cancérologie Gustave Roussy, Villejuif, France (author)
  • Casadevall, NicoleHôpital Saint Antoine, Paris, France; Assistance Publique-Hôpitaux de Paris, Paris, France; Pierre et Marie Curie University, Paris, France; UMR1009 Institut Gustave Roussy Villejuif, Paris, France (author)
  • Vainchenker, WilliamUMR 1009 and GRex, INSERM, Université Paris-Sud, Institut Gustave Roussy, Villejuif, France (author)
  • Rives, SusanaDepartment of Pediatric Hematology, Hospital Sant Joan de Déu de Barcelona, University of Barcelona, Barcelona, Spain (author)
  • Hermouet, SylvieUnité Mixte de Recherche (UMR) 892 Inserm - 6299 CNRS, Université de Nantes, Nantes, France (author)
  • Ribeiro, M. LeticiaDepartment of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal (author)
  • McMullin, Mary FrancesDepartment of Haematology, CCRCB, Queen's University, Belfast, Northern Ireland, United Kingdom (author)
  • Cario, HolgerDepartment of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany (author)
  • Department of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, PortugalDepartment of Haematology, Belfast City Hospital, Belfast, United Kingdom (creator_code:org_t)

Related titles

  • In:Human Mutation: Wiley-Blackwell35:1, s. 15-261059-77941098-1004

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