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Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway Percy MJUlster Med J 2008[May]; 77 (2): 86-8A mutation of HIF-2 alpha has been detected in three generations of a family with erythrocytosis and the mutation co-segregated with the erythrocytosis phenotype. Functional studies revealed that Gly537Trp mutation would significantly impair the function of HIF-2 alpha thus leading to increased synthesis of Epo. In addition to VHL and PHD2 a further member of the oxygen sensing pathway, namely HIF-2 alpha,can be a cause of erythrocytosis. Furthermore, HIF-2 alpha plays an important role in the regulation of Epo production. Continued study of idiopathic cases of erythrocytosis with raised serum Epo will reveal whether HIF-2 alpha will be a major cause of erythrocytosis on par with VHL.|*Genetic Predisposition to Disease[MESH]|*Mutation[MESH]|Animals[MESH]|Basic Helix-Loop-Helix Transcription Factors/blood/*genetics[MESH]|DNA/*genetics[MESH]|Erythrocytes/*metabolism[MESH]|Humans[MESH]|Oxygen/*metabolism[MESH]|Pedigree[MESH]|Polycythemia/blood/*genetics[MESH] |
