Article
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
Blood - 15 Jan 2006
Perrotta Silverio, Nobili Bruno, Ferraro Marcella, Migliaccio Carmela, Borriello Adriana, Cucciolla Valeria, Martinelli Vincenzo, Rossi Francesca, Punzo Francesca, Cirillo Paola, Parisi Giuseppe, Zappia Vincenzo, Rotoli Bruno, Della Ragione Fulvio
Abstract excerpt
Chuvash polycythemia (MIM 263400) is an autosomal recessive disorder characterized by a high hemoglobin level, relatively high serum erythropoietin, and early death. It results from a Von Hippel-Lindau (VHL) gene mutation (C598T) that causes increased HIF-1alpha activity and erythrocyte production in the face of normoxia. This polycythemia is endemic in Chuvashia, whereas its worldwide frequency is very low. We...
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