Tuyển tập các báo cáo nghiên cứu khoa học ngành y học tạp chí Medical Sciences dành cho các bạn sinh viên ngành y tham khảo đề tài: Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene: Essential Role of P50 in Evaluation of Familial Polycythemia. | Int. J. Med. Sci. 2007 4 232 Short Research Communication International Journal of Medical Sciences ISSN 1449-1907 2007 4 4 232-236 Ivyspring International Publisher. All rights reserved Familial Polycythemia Caused by a Novel Mutation in the Beta Globin Gene Essential Role of P50 in Evaluation of Familial Polycythemia Neeraj Agarwal 1 Mariluz P. Mojica-Henshaw 2 Elizabeth. D. Simmons 3 Dottie Hussey 4 Ching N. Ou 5 Josef T. Prchal 6 1. Department of Internal Medicine University of Utah Salt Lake City Utah USA 2. Department of Internal Medicine University of Utah Salt Lake City Utah USA 3. Department of Hematology and Oncology Kaiser Permanente Southern California USA 4. ARUP Laboratories Salt Lake City Utah USA 5. Department of Pathology Texas Children s Hospital. Houston Texas USA 6. Department of Internal Medicine University of Utah Salt Lake City Utah ARUP Laboratories Salt Lake City Utah USA Correspondence to Josef T. Prchal MD. 5C 310 SOM 50 North Medical Drive Salt Lake City Utah 84132. Received Accepted Published Two polycythemic subjects from a family with multiple polycythemic subjects were evaluated. Estimation of oxygen affinity of Hb from venous blood gas parameters P50 revealed low P50 suggesting a high affinity Hb variant. Further work up which included beta globin gene sequencing revealed a novel mutation changing a codon to the previously reported high affinity Hb - Hb Johnstown beta109 Val- Leu . Polycythemic subjects with high affinity Hb variant are asymptomatic with normal life expectancy. Their differentiation from polycythemia vera PV is crucial to avoid therapy which is otherwise reserved for PV patients. We provide an electronic version in Microsoft excel program of a previously reported mathematical formula for rapid calculation of P50 from venous blood gases. Estimation of P50 is an essential initial step in the evaluation of a subject with personal and family .
