Paroxysmal Nocturnal Hemoglobinuria- is a CLINICAL MANIFESTATIONS

rare chronic intravascular hemolytic anemia

caused by an acquired clonal hematopoietic RELATED TO INTRAVASCULAR HEMOLYSIS
stem cell mutation that results in circulating  Hemolytic anemia
blood cells that lack
 Hemoglobinuria
glycosylphosphatidylinositol (GPI)–anchored
 Chronic renal failure
proteins, such as CD55 and CD59
 Cholelithiasis
a hematopoietic stem cell acquires a mutation  Esophageal spasm, erectile dysfunction
in the PIGA gene that codes for
RELATED TO THROMBOSIS
phosphatidylinositol glycan class A (PIG-A)
Venous

 Abdominal vein thrombosis: hepatic

PIG-A gene- Phosphatidylinositol N-
(Budd-Chiari syndrome),
acetylglucosaminyltransferase subunit A (PIG-A,
 splenic, renal veins
or phosphatidylinositol glycan, class A) is the
 Portal hypertension
catalytic subunit of the phosphatidylinositol N-
 Cerebral vein thrombosis
acetylglucosaminyltransferase enzyme, which in
humans is encoded by the PIGA gene  Retinal vein thrombosis and loss of
vision
This gene encodes a protein required for  Deep vein thrombosis, pulmonary
synthesis of N-acetylglucosaminyl emboli
phosphatidylinositol (GlcNAc-PI), the first
intermediate in the biosynthetic pathway of GPI Arterial (less common)
anchor.
 Stroke
Type I RBCs are phenotypically normal, express  Myocardial infarction
normal amounts of CD55 and CD59, and
Related to bone marrow failure
undergo little or no complement-mediated
hemolysis.  Pancytopenia: fatigue, infections,
bleeding
Type II RBCs are the result of a PIGA mutation
 Myelodysplastic syndrome
that causes only a partial deficiency of CD55 and
CD59, and these cells are relatively resistant to
complement-mediated hemolysis.
Diagnosis
Type III RBCs are the result of a PIGA mutation
that causes a complete deficiency of the GPI CBC Hb and Hct are decreased
anchor, and therefore no CD55 and CD59
Reticulocytes most of the time increased
proteins are anchored to the RBC surface. Type
III RBCs are highly sensitive to spontaneous lysis MCV is 80-100 which is normal but will decrease
by complement. if there is iron deficiency anemia
Sucrose hemolysis test is the screening test for
PNH

Acidified Serum Test is the confirmatory

Flow cytometry is the Gold standard test for

identifying the absence of CD55 and CD59