ASPEK LABORATORIUM DARI POLISITEMIA PRIMER (PV)

LABORATORY ASPECT OF PRIMARY POLYCYTHEMIA (PV)

Abstract

Polycythemia or erythrocytosis is an increase in red blood cell mass. There
is an increase in the concentration of red blood cells and hemoglobin in
the blood. Primary polycythemias are caused by acquired or inherited
mutations that cause functional changes in hematopoietic stem cells or
erythroid progenitors resulting in accumulation of red blood cells.
Common primary polycythemias include: Polycythemia Vera (PV), which
is a clonal disorder. The assessment steps for polycythemia require the
patient's clinical history and complete blood count (CBC) results,
Erythropoietin (Epo) levels to determine the cause of erythrocytosis, and
molecular analysis of JAK2 mutations to evaluate Polycythemia vera.
Patients with clinical suspicion of congenital erythrocytosis need
mutational analysis as a confirmatory test. The development of molecular
tests for mutations associated with polycythemia can establish a clearer
classification and etiology. The JAK2 V617F mutation is most common in
PV (>95%) and is present in the majority of PMF and ET (50% to 60%).
Various methods have been advocated for the detection of JAK2 V617F,
including high-resolution PCR product melting curve analysis, Sanger
sequencing or pyrosequencing, and allele-specific PCR variants (eg,
amplification refractory mutation system [ARMS] and RQ-PCR). Of these,
the allele-specific PCR approach using DNA as a template reproducibly
achieves the highest analytical sensitivity.