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四肢麻木、头晕、头胀
Familial polycythemia is a rare hereditary polycythemia caused by congenital high-oxygen-affinity hemoglobin variants (reduced P50, tissue hypoxia drives erythropoietin) or by erythropoietin-receptor mutations causing constitutive JAK-STAT activation. RBC count and hemoglobin are elevated without major symptoms; prognosis generally good.
Plethora; ruddy complexion; headache; asymptomatic in many
Inherited high-affinity hemoglobin (Hb Chesapeake etc.) or EPOR gain-of-function mutation causes increased erythropoiesis independent of physiologic feedback.
Observation; phlebotomy if symptomatic; avoid iron deficiency
Genetic counseling; family screening.
It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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