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 Blood, 15 January 2006, Vol. 107, No. 2, pp. 514-519.
Prepublished online as a Blood First Edition Paper on October 6, 2005; DOI 10.1182/blood-2005-06-2422.

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HEMATOPOIESIS

Von Hippel-Lindau–dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster

Silverio Perrotta, Bruno Nobili, Marcella Ferraro, Carmela Migliaccio, Adriana Borriello, Valeria Cucciolla, Vincenzo Martinelli, Francesca Rossi, Francesca Punzo, Paola Cirillo, Giuseppe Parisi, Vincenzo Zappia, Bruno Rotoli, and Fulvio Della Ragione

From the Department of Pediatrics, Second University of Naples, Italy; the Department of Biochemistry and Biophysics "F. Cedrangolo," Second University of Naples, Italy; the Division of Hematology, Federico II University, Naples, Italy; and the Divisione di Pediatria, Ospedale Anna Rizzoli, Lacco Ameno d'Ischia, Naples, Italy.

Chuvash polycythemia (MIM 263400 [OMIM] ) 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-1{alpha} activity and erythrocyte production in the face of normoxia. This polycythemia is endemic in Chuvashia, whereas its worldwide frequency is very low. We investigated the incidence of the Chuvash-type VHL mutation in Campania (South Italy) and identified 14 affected subjects (5 families). Twelve live on the island of Ischia (Bay of Naples). From analysis of the mutated allele, we found that the disease was more frequent on Ischia (0.070) than in Chuvashia (0.057). The haplotype of all patients matched that identified in the Chuvash cluster, thereby supporting the single-founder hypothesis. We also found that nonaffected heterozygotes had increased HIF-1{alpha} activity, which might confer a biochemical advantage for mutation maintenance. In conclusion, we have identified the first large cluster of Chuvash erythrocytosis outside Chuvashia, which suggests that this familial polycythemia might be endemic in other regions of the world.


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