Introduction: Rare congenital disorder familial erythrocytosis (FE) is characterized by elevated red blood cell number, haemoglobin and haematocrit. Variants in genes involved in oxygen sensing pathway or genes affecting haemoglobin oxygen affinity results in eight types of FE (ECYT 1-8). Our aim was to develop effective diagnostic strategy for identification of FE in Slovenia. Conclusions: We successfully established up to date diagnostic algorithm for FE in Slovenia and facilitated its broad accessibility within medical society via ViDis platform. Implementation into clinical practice revealed an EGLN1 variant in one studied family, indicative for FE type 3 (ECYT3).
B.04 Guest lecture
COBISS.SI-ID: 34393305A haematological disorder erythrocytosis occurs when red blood cell mass is abnormally high, which is detected as increased haemoglobin and haematocrit levels in blood stream. Hereditary (familial) erythrocytosis has multiple genetic origin and is classified in eight subgroups (ECYT1-8). Causative variants are located in erythropoietin receptor gene (EPOR), genes affecting haemoglobin oxygen affinity (HBB, HBA1, HBA2, BPGM) or numerous genes involved in oxygen sensing pathway (VHL, EGLN1, EPAS1, EPO). The role of hypoxia inducible factors (including EPAS1), VHL and prolyl hydroxylase (EGLN1) in oxygen sensing was described in detail by William G. Kaelin Jr, Sir Peter J. Ratcliffe and Gregg L. Semenza, awarded with Nobel prize in Physiology or Medicine 2019. Due to heterogenic genetic background, characterization of disease is problematic and considerable amount of patients (~70%) still remain without an identified cause, despite full screening for known mutations. Therefore, our aim was to optimize NGS sequencing approach and apply NGS in clinical practice for the diagnosis of hereditary erythrocytosis.
B.04 Guest lecture
COBISS.SI-ID: 15458051