2006Laboratory MedicineRequires access

The Use of Flow Cytometry in Diagnosis of Paroxysmal Nocturnal Hemoglobinuria

Horatiu Olteanu, Yin Xu

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Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell disease with complex pathophysiology, characterized by a global deficiency in glycosyl-phosphatidylinositol-anchored proteins in the affected cells. The name of the condition emphasizes the occurrence of complement-induced hemolysis due to lack of essential complement regulatory proteins in erythrocytes, particularly CD59. Over time, it became apparent that episodic exacerbations of chronic hemolytic anemia are not necessarily nocturnal, nor do they represent the main presenting symptom in all cases. Paroxysmal nocturnal hemoglobinuria can also manifest with thrombotic events and bone marrow failure, and distinguishing among different types of PNH is important for treatment and prognostic purposes.

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What this paper is about

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell disease with complex pathophysiology, characterized by a global deficiency in glycosyl-phosphatidylinositol-anchored proteins in the affected cells. The name of the condition emphasizes the occurrence of complement-induced hemolysis due to lack of essential complement regulatory proteins in erythrocytes, particularly CD59. Over time, it became apparent that episodic exacerbations of chronic hemolytic anemia are not necessarily nocturnal, nor do they represent the main presenting symptom in all cases. Paroxysmal nocturnal hemoglobinuria can also manifest with thrombotic events and bone marrow failure, and distinguishing among different types of PNH is important for treatment and prognostic purposes.

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Available abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell disease with complex pathophysiology, characterized by a global deficiency in glycosyl-phosphatidylinositol-anchored proteins in the affected cells. The name of the condition emphasizes the occurrence of complement-induced hemolysis due to lack of essential complement regulatory proteins in erythrocytes, particularly CD59. Over time, it became apparent that episodic exacerbations of chronic hemolytic anemia are not necessarily nocturnal, nor do they represent the main presenting symptom in all cases. Paroxysmal nocturnal hemoglobinuria can also manifest with thrombotic events and bone marrow failure, and distinguishing among different types of PNH is important for treatment and prognostic purposes.

Key concepts: Paroxysmal nocturnal hemoglobinuria, CD59, Hemoglobinuria, Eculizumab, Bone marrow failure, Immunology, Hemolysis, Bone marrow

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