Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis  

作　　者：Wenqian Li Guoxiong Han Xiaorui Wang Kuo Shen Youbang Xie 

机构地区：[1]Department of Hematology,Qinghai Provincial People’s Hospital,Xining 810007,China [2]National Clinical Research Center for Hematologic Diseases,the First Affiliated Hospital of Soochow University,Suzhou 215000,China

出　　处：《Science China(Life Sciences)》2025年第3期880-883,共4页中国科学(生命科学英文版)

基　　金：supported by the Translational Research Grant of NCRCH (2021WWB04);the Clinical Research Center for Blood System Diseases of Qinghai Province (2021-SF-136);the 2022 “Kunlun Yingcai” Advanced Innovation and Entrepreneurship Top-notch Talents Project in Qinghai Province;the National Natural Science Foundation of China(81960027).

摘　　要：Dear Editor,Polycythemia,defined by an elevated red blood cell(RBC)count and increased hemoglobin(Hb)levels,is not typically associated with leukocytosis or thrombocytosis(Lund and Anholm,1957).Familial erythrocytosis(FE),also known as primary FE,has been linked to mutations in the erythropoietin receptor(EPOR),as identified in early research(Vočanec et al.,2019).Secondary FE,on the other hand,arises from abnormal regulation of hematopoietic progenitor cells due to erythropoiesis-promoting factors.This type is often marked by issues in the oxygen-sensing pathway(classified as ECYT2-5)or variations in Hb oxygen affinity(classified as ECYT6-7)(OMIM),both of which result in normal or elevated serum erythropoietin(EPO)levels(Amberger et al.,2015;McMullin,2008).Key mutations involved in secondary FE include those in HBB,BPGM,VHL,EGLN1,and EPAS(Bento et al.,1993).Current understanding suggests that primary erythrocytosis is driven by intrinsic molecular defects that increase cellular sensitivity to EPO,despite lower serum EPO levels compared to healthy controls.

关 键 词：elevated typically 

分 类 号：R73[医药卫生—肿瘤]