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

An erythrocytosis is current when the pink blood cell mass is elevated, demonstrated as elevated hemoglobin and hematocrit within the laboratory analysis. Congenital predispositions for erythrocytosis are uncommon, with germline variants in a number of genes concerned in oxygen sensing (VHL, EGLN1, and EPAS1), signaling for hematopoietic cell maturation (EPOR and EPO), and oxygen switch (HBB, HBA1, HBA2, and BPGM) that had …

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