Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family  

作　　者：Bertozzi Irene Benetti Andrea Regazzo Daniela Polese Francesca Biagetti Giacomo Ceolotto Giulio Randi Maria Luigia 

机构地区：[1]First Medical Clinic,University of Padua Department of Medicine – DIMED,Via Giustiniani 2,Padova 35123,Italy [2]Transfusion Medicine Department,Ospedale dell'Angelo - Venezia Mestre,Via Paccagnella 1,Venice 30174,Italy [3]Emergency Medicine,University of Padua Department of Medicine – DIMED,Via Giustiniani 2,Padova 35123,Italy

出　　处：《Genes & Diseases》2024年第2期561-563,共3页基因与疾病（英文）

基　　金：partially funded by the Dotazione Ordinaria Ricerca(DOR)-University of Padua.

摘　　要：Absolute erythrocytosis,due to an increased production of red blood cells,becomes manifest with hemoglobin(Hb)levels above 165 or 160 g/L or with a hematocrit(HCT)above 51%and 48%in males and females,respectively.1 A minority of patients have polycythemia vera(PV);acquired secondary erythrocytosis frequently occurs due to appropriate or inappropriate erythropoietin(EPO)excess,while congenital secondary erythrocytosis may derive from genetic defects causing tissue hypoxia.Hereditary erythrocytosis occurs in patients with genetic mutations of the oxygen-sensing pathway(VHL,PHD2,_HIF-1-alpha)or the erythropoietin receptor(EPOR)genes.2 Recently,HFE gene variants have been described in sporadic erythrocytoses.3 In a high proportion(about 70%)of patients with erythrocytosis,a specific etiology remains elusive despite extensive testing,and the diagnosis of idiopathic erythrocytosis(IE)is ruled out.

关 键 词：diagnosis patients CONGENITAL 

分 类 号：R394[医药卫生—医学遗传学]