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美国卫生研究院文献>Haematologica
>Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit
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Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit
Thrombosis is a common complication in Chuvash erythrocytosis, the first genetic disorder of up-regulated hypoxia sensing to be discovered. We present an update supporting the concept that the occurrence of thrombosis in Chuvash erythrocytosis is independent of hematocrit and that the thrombotic risk seems to be increased by phlebotomy. We also present a six-generation pedigree with HIF-2α-mutated dominant erythrocytosis in which there is a high rate of thrombosis despite strict control of the hematocrit by phlebotomy. These results are consistent with the concept that inherited causes of erythrocytosis due to up-regulated hypoxia sensing are accompanied by physiological changes that could directly affect thrombotic risk, irrespective of the elevated hematocrit.
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