Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis

Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis

An erythrocytosis is present when the red blood cell mass is increased, demonstrated as elevated hemoglobin and hematocrit in the laboratory evaluation. Congenital predispositions for erythrocytosis are rare, with germline variants in several genes involved in oxygen sensing (VHL, EGLN1, and EPAS1),...

Full description

Bibliographic Details
Main Authors: Aleša Kristan, Tadej Pajič, Aleš Maver, Tadeja Režen, Tanja Kunej, Rok Količ, Andrej Vuga, Martina Fink, Špela Žula, Helena Podgornik, Saša Anžej Doma, Irena Preložnik Zupan, Damjana Rozman, Nataša Debeljak
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
NGS – next-generation sequencing
erythrocytosis
targeted panel sequencing
iron metabolism
diagnostics
rare disease (RD)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.689868/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.689868/full

Similar Items