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Haematologica, Vol 90, Issue 5, 689-691
Copyright © 2005 by Ferrata Storti Foundation

Case Reports

Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin

ML Randi, A Murgia, MC Putti, M Martella, A Casarin, G Opocher, and F Fabris

In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). The man's unaffected mother and sister carry the same mutation. No other VHL genomic or expression alterations were found. In one other patient different genetic conditions were found.


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