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Prepublished online as a Blood First Edition Paper on April 17, 2003; DOI 10.1182/blood-2002-10-3246. This Article Full Text Full Text (PDF) All Versions of this Article: 2002-10-3246v1 102/3/1097    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Percy, M. J. Articles by Lappin, T. R. J. Search for Related Content PubMed PubMed Citation Articles by Percy, M. J. Articles by Lappin, T. R. J. Related Collections Red Cells Brief Reports Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 August 2003, Vol. 102, No. 3, pp. 1097-1099 RED CELLS Brief report Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry Melanie J. Percy, Mary Frances McMullin, Simon N. Jowitt, Michael Potter, Marilyn Treacy, William H. Watson, and Terence R. J. Lappin From the Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland; the Department of Haematology, Queen's University, Belfast, Northern Ireland; the Department of Haematology, Stepping Hill Hospital, Stockport, Cheshire, England; the Department of Haematology, Royal Free Hospital, London, England; the Department of Haematology, Chase Farm Hospital, Enfield, Middlesex, England; and the Department of Haematology, Monklands Hospital, Airdrie, Lanarkshire, Scotland The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of families in central Russia. Affected individuals have been reported to be homozygous for an Arg200Trp mutation in the von Hippel–Lindau (VHL) gene. We have screened 78 patients with erythrocytosis and found 8 of Bangladeshi and Pakistani origin to be homozygous for the Arg200Trp mutation and another of English descent to be heterozygous. Of these patients, 5 have elevated serum erythropoietin (Epo) levels, while the other 4 have Epo values in the normal range. The heterozygous patient does not fulfill the Chuvash criterion for homozygosity of the Arg200Trp mutation and consequently may harbor a further, as yet uncharacterized, mutation. This mutation has a wider geographic distribution than originally presumed and haplotype analysis suggests a common origin of the Arg200Trp mutation in the 4 families, but it still remains to be established if it has arisen independently of the Chuvash population. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: A new von Hippel–Lindau disease Peter J. Ratcliffe Blood 2003 102: 779-780. [Full Text] [PDF] This article has been cited by other articles: M. J. Percy and F. S. Lee Familial erythrocytosis: molecular links to red blood cell control Haematologica, July 1, 2008; 93(7): 963 - 967. [Full Text] [PDF] M. 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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] M. J. Percy, Q. Zhao, A. Flores, C. Harrison, T. R. J. Lappin, P. H. Maxwell, M. F. McMullin, and F. S. Lee From the Cover: A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis PNAS, January 17, 2006; 103(3): 654 - 659. [Abstract] [Full Text] [PDF] S. Perrotta, B. Nobili, M. Ferraro, C. Migliaccio, A. Borriello, V. Cucciolla, V. Martinelli, F. Rossi, F. Punzo, P. Cirillo, et al. Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster Blood, January 15, 2006; 107(2): 514 - 519. [Abstract] [Full Text] [PDF] M. J. Percy, F. G.C. Jones, T. R.J. 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