A Hitherto Undescribed Von Hippel Lindau Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association and Familiar Characteristics, Preliminary Data

Conclusions: we do recommend VHL gene sequenation in young patients with otherwise unxplained polyglobulia, especially if there is any sign of familiarity, or unusual precipitation of cancer in the family. We are extending our family screening more deeply, and try to gain data on this polymorphism in 100 young healthy volunteers, analysing their bloofd counts and complex family history. We plan careful hematologic and oncologic followup of our patients and first degree relatives.DisclosuresMiklos: Novo nordisk: Honoraria; AOP Orphan: Honoraria.
Source: Blood - Category: Hematology Authors: Tags: 101. Red Cells and Erythropoiesis, Structure and Function, Metabolism, and Survival, Excluding Iron Source Type: research