Autosomal dominant polycythemia
作者： JT Prchal , WM Crist , E Goldwasser , G Perrine , JF Prchal
DOI: 10.1182/BLOOD.V66.5.1208.1208
关键词:
摘要: Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements selected affected subjects documented their polycythemia. Measurements of arterial p02s, p50s, blood oxygen affinity were normal all individuals from each who tested. Erythropoietin (EPO) levels low 1 2. Stimulation vitro CFU-E colony growth by EPO was significantly increased 1, but those We conclude that although the inheritance pattern for both these appeared to be same, biologic defect leading disorder unique different. The precise mechanism sensitivity noted awaits elucidation.
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