|
|
 Previous Article | Table of Contents | Next Article 
Congenital polycythemia in Chuvashia
A Sergeyeva, VR Gordeuk, YN Tokarev, L Sokol, JF Prchal and JT Prchal
Medical Institute of the Chuvash State University, Cheboksary, Russia.
Familial and congenital polycythemia, not due to high oxygen affinity
hemoglobin or reduced 2,3-diphosphoglycerate in erythrocytes, is common in
the Chuvash population of the Russian Federation. Hundreds of individuals
appear to be affected in an autosomal recessive pattern. We studied six
polycythemic Chuvash patients <20 years of age from unrelated families
and 12 first-degree family members. Hemoglobins were markedly elevated in
the index subjects (mean +/- standard deviation [SD] of 22.6 +/- 1.4 g/dL),
while platelet and white blood cell counts were normal. Although performed
in only three of the index subjects, serum erythropoietin concentrations
determined by both radioimmune and functional assays were significantly
higher in polycythemic patients compared with first-degree family members
with normal hemoglobin concentrations. Southern blot analysis of the Bgl 2
erythropoietin gene polymorphism showed that one polycythemic subject was a
heterozygote, suggesting the absence of linkage of polycythemia with the
erythropoietin gene, assuming autosomal recessive inheritance. Polymerase
chain reaction (PCR) amplification of the GGAA and GA minisatellite
polymorphic regions of the erythropoietin receptor gene showed no evidence
of linkage of phenotype with this gene. We conclude that Chuvash
polycythemia may represent a secondary form of familial and congenital
polycythemia of as yet unknown etiology. This condition is the only endemic
form of familial and congenital polycythemia described.
Volume 89,
Issue 6,
pp. 2148-2154,
03/15/1997
Copyright © 1997 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
J. T. S. Brooks, G. P. Elvidge, L. Glenny, J. M. Gleadle, C. Liu, J. Ragoussis, T. G. Smith, N. P. Talbot, L. Winchester, P. H. Maxwell, et al.
Variations within oxygen-regulated gene expression in humans
J Appl Physiol,
January 1, 2009;
106(1):
212 - 220.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. Skoda
The Genetic Basis of Myeloproliferative Disorders
Hematology,
January 1, 2007;
2007(1):
1 - 10.
[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]
|
|
|
|
|
|
|
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]
|
|
|
|
|
|
|
V. R. Gordeuk, A. I. Sergueeva, G. Y. Miasnikova, D. Okhotin, Y. Voloshin, P. L. Choyke, J. A. Butman, K. Jedlickova, J. T. Prchal, and L. A. Polyakova
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors
Blood,
May 15, 2004;
103(10):
3924 - 3932.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. J. Percy, M. F. McMullin, S. N. Jowitt, M. Potter, M. Treacy, W. H. Watson, and T. R. J. Lappin
Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry
Blood,
August 1, 2003;
102(3):
1097 - 1099.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. Shibata, J. Hasegawa, H.-J. Siemens, E. Wolber, L. Dibbelt, D. Li, D. M. Katschinski, J. Fandrey, W. Jelkmann, M. Gassmann, et al.
Hemostasis and coagulation at a hematocrit level of 0.85: functional consequences of erythrocytosis
Blood,
June 1, 2003;
101(11):
4416 - 4422.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
Y. D. Pastore, J. Jelinek, S. Ang, Y. Guan, E. Liu, K. Jedlickova, L. Krishnamurti, and J. T. Prchal
Mutations in the VHL gene in sporadic apparently congenital polycythemia
Blood,
February 15, 2003;
101(4):
1591 - 1595.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Tefferi
Polycythemia Vera: A Comprehensive Review and Clinical Recommendations
Mayo Clin. Proc.,
February 1, 2003;
78(2):
174 - 194.
[Abstract]
[PDF]
|
|
|
|
|
|
|
B. L. Ebert and H. F. Bunn
Regulation of the Erythropoietin Gene
Blood,
September 15, 1999;
94(6):
1864 - 1877.
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Cazzola, R. Guarnone, P. Cerani, A. Rovati, and E. Ascari
Congenital Erythropoietin-Dependent Erythrocytosis Responsive to Theophylline Treatment
Blood,
January 1, 1998;
91(1):
360 - 362.
[Full Text]
[PDF]
|
|
|
|
|
