Polycythemia vera in patients of beta-thalassemia trait and stress erythropoiesis

β-地中海贫血基因携带者和应激性红细胞生成患者的真性红细胞增多症

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Abstract

A 70-year-old male with a known case of beta-thalassemia trait and was on yearly follow-up was found to have a hemoglobin of 14.8 g/dL, hematocrit of 47.7%, and RBC count of 6.0 × 10(12)/L. Total leukocyte count (TLC) was 5 × 10(9)/L and platelet count was 4 × 10(9)/L. Secondary causes of polycythemia were ruled out (e.g., renal or cardiac disease and smoking). He did not have symptoms of hyperviscosity syndrome. The abdominal ultrasound showed no abnormalities. On further investigation, a JAK-2 (Exon 14) mutation was detected in this patient confirming the diagnosis of polycythemia vera (PV).

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