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REVIEW ARTICLE
Year : 2018  |  Volume : 9  |  Issue : 2  |  Page : 39-44

Primary familial and congenital polycythemia; The forgotten entity


Department of Pathology, Hematology Unit, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia

Correspondence Address:
Dr. Mansour S Aljabry
Department of Pathology, Hematology Unit, King Khalid University Hospital, King Saud University, P. O. Box 2925, Riyadh 11461
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/joah.joah_30_18

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Primary familial and congenital polycythemia (PFCP) is a rare autosomal dominant disorder caused by hypersensitivity of erythropoietin receptor of erythroid progenitors leading to increased rate of erythropoiesis at any given serum erythropoietin level. The hallmark of this disorder is isolated erythrocytosis with the absence of splenomegaly and lack of secondary causes of polycythemia. In this short review, we will shed light on various aspects of PFCP with special focus on molecular pathogenesis and diagnostic approach.


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