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Blood, 15 January 2006, Vol. 107, No. 2, pp. 514-519. Prepublished online as a Blood First Edition Paper on October 6, 2005; DOI 10.1182/blood-2005-06-2422. This Article Full Text (PDF) All Versions of this Article: 2005-06-2422v1 107/2/514    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Perrotta, S. Articles by Della Ragione, F. Search for Related Content PubMed PubMed Citation Articles by Perrotta, S. Articles by Della Ragione, F. Related Collections Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted June 20, 2005 Accepted September 5, 2005 Von Hippel Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster Silverio Perrotta*, Bruno Nobili, Marcella Ferraro, Carmela Migliaccio, Adriana Borriello, Valeria Cucciolla, Vincenzo Martinelli, Francesca Rossi, Francesca Punzo, Paola Cirillo, Giuseppe Parisi, Vincenzo Zappia, Bruno Rotoli, and Fulvio Della Ragione Department of Pediatrics, Second University of Naples, Naples, Italy Department of Biochemistry and Biophysics "F.Cedrangolo", Second University of Naples, Naples, Italy Division of Hematology, University of Naples, Federico II University, Naples, Italy Divisione di Pediatria, Ospedale Anna Rizzoli, Lacco Ameno d'Ischia, Ischia, Naples, Italy * Corresponding author; email: silverio.perrotta{at}unina2.it. Chuvash polycythemia (MIM 263400) is an autosomal recessive disorder characterized by a high hemoglobin level, relatively high serum erythropoietin and early death. It results from a Von Hippel-Lindau (VHL) gene mutation (C598T) that causes increased HIF-1activity and erythrocyte production in the face of normoxia. This polycythemia is endemic in Chuvashia, whereas its worldwide frequency is very low. We investigated the incidence of the Chuvash-type VHL mutation in Campania (South Italy), and identified 14 affected subjects (5 families). Twelve live on the island of Ischia (Bay of Naples). Based on analysis of the mutated allele, we found that the disease was more frequent on Ischia (0.070) than in Chuvashia (0.057). The haplotype of all patients matched that identified in the Chuvash cluster, thereby supporting the single-founder hypothesis. We also found that non-affected heterozygotes had increased HIF-1activity, which might confer a biochemical advantage for mutation maintenance. In conclusion, we have identified the first large cluster of Chuvash erythrocytosis outside Chuvashia, which suggests that this familial polycythemia might be endemic in other regions of the world. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Is a little hypoxia good for you? Josef T. Prchal and Victor R. Gordeuk Blood 2006 107: 417-418. [Full Text] [PDF] This article has been cited by other articles: P. Gergics, A. Patocs, M. Toth, P. Igaz, N. Szucs, I. Liko, F. Fazakas, I. Szabo, B. Kovacs, E. Glaz, et al. Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas Eur. J. Endocrinol., September 1, 2009; 161(3): 495 - 502. [Abstract] [Full Text] [PDF] P. W. Furlow, M. J. Percy, S. Sutherland, C. Bierl, M. F. McMullin, S. R. Master, T. R. J. Lappin, and F. S. 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Pardanani Evaluation of 'Increased' Hemoglobin in the JAK2 Mutations Era: A Diagnostic Algorithm Based on Genetic Tests Mayo Clin. Proc., May 1, 2007; 82(5): 599 - 604. [Abstract] [Full Text] [PDF] G.Y. Oudit, A.M. Herzenberg, Z. Kassiri, D. Wong, H. Reich, R. Khokha, M.A. Crackower, P.H. Backx, J.M. Penninger, J.W. Scholey, et al. Angiotensin-Converting Enzyme-2 (ACE2)--A New Player in the Genesis of Glomerular Injury?: Loss of Angiotensin-Converting Enzyme-2 Leads to the Late Development of Angiotensin II-Dependent Glomerulosclerosis. Am J Pathol 168: 1808-1820, 2006 J. Am. Soc. Nephrol., October 1, 2006; 17(10): 2637 - 2643. [Full Text] [PDF]

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