Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry
Abstract
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.
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Chuvash polycythemia is caused by a homozygous mutation in VHL at codon 200, R200W.
“It is caused by a homozygous mutation in the VHL tumor suppressor at codon 200, R200W”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [127]
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Self-citation
- Authors
- Percy, M. J., McMullin, M. F., Jowitt, S. N., Potter, M., Treacy, M., Watson, W. H., & Lappin, T. R. J.
- Affiliations
- Queen's University Belfast (GB)
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2003-08-01
- Volume
- 102
- Issue
- 3
- Pages
- 1097-1099
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2076214775
- Cited by
- 90
- References
- 14
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 2 · 2019: 4 · 2017: 1 · 2016: 3 · 2014: 2 · 2013: 4 · 2012: 3
- FWCI
- 3.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
- Health Sciences › Medicine › Genetics › Myeloproliferative Neoplasms: Diagnosis and Treatment
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Keywords
- Chuvash polycythemia, von Hippel-Lindau gene, erythropoietin, heterozygous mutation, haplotype analysis, geographic distribution
- MeSH terms
- Asia, Erythropoietin, Europe, Family Health, Female, Gene Frequency, Heterozygote, Homozygote, Humans, Ligases, Male, Pedigree, Polycythemia, Mutation, Missense, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Ubiquitin-Protein Ligases, Von Hippel-Lindau Tumor Suppressor Protein
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