Volumen: 20 # Number : 3
Publication Date : Septiembre - Diciembre Year: 2016
LABORATORIO
EN HEMATOLOGÍA |
Paroxysmal nocturnal hemoglobinuria:
diagnosis by multiparametric flow cytometry
Authors: Torreguitart F., Iommi P., Sandoval M., Gaite A., Agriello E
Abstract: Paroxysmal nocturnal hemoglobinuria (PNH) is
an acquired clonal disease caused by a somatic
mutation in the PIG-A gene (phosphatidylinositol
glycan-class A) located on the short arm of X
chromosome (Xp22.1). The mutation occurs at a
hematopoietic precursor cell, and the affected gene
encodes a protein involved in the glycosyl phosphatidylinositol
(GPI) synthesis. The result of this
mutation is a partial or total deficiency in the expression
of those proteins that are usually attached
to the cellular membrane surface by the GPI anchor.
The classic manifestations of the disease include
intravascular hemolytic anemia, episodes of hemoglobinuria,
bone marrow failure with peripheral cytopenias
and thromboembolic phenomena, often in
unusual places.
The different signs and symptoms that experience
these patients have great impact on their quality of
life, hence a correct diagnosis is vital. Currently,
multiparametric flow cytometry is the methodology
of choice to detect and monitor patients with PNH.
Key words: PNH
GPI
FLAER
CD157
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