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Prepublished online as a Blood First Edition Paper on April 17, 2003; DOI 10.1182/blood-2002-10-3246.
Submitted October 28, 2002
Accepted March 31, 2003
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
Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom
Department of Haematology, Queen's University, Belfast, Northern Ireland, United Kingdom
Department of Haematology, Stepping Hill Hospital, Stockport, Cheshire, United Kingdom
Department of Haematology, Royal Free Hospital, London, United Kingdom
Department of Haematology, Chase Farm Hospital, Enfield, Middlesex, United Kingdom
Department of Haematology, Monklands Hospital, Airdrie, Lanarkshire, United Kingdom
* Corresponding author; email: melanie.percy{at}bll.n-i.nhs.uk.
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 eight of Bangladeshi and Pakistani origin to be homozygous for the Arg200Trp mutation and another of English descent to be heterozygous. Five of these patients have elevated serum erythropoietin (Epo) levels, while the other four have Epo values in the normal range. The heterozygous patient does not fulfil the Chuvash criterion for homozygosity of Arg200Trp mutation and consequently may harbor a further, as yet uncharacterized mutation. This mutation has a wider geographical distribution than originally presumed and haplotype analysis suggests a common origin of the Arg200Trp mutation in the four families but it still remains to be established if it has arisen independently of the Chuvash population.
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