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Laboratory tests for paroxysmal nocturnal hemoglobinuria
Meir Preis1, Christopher H Lowrey
1Division of Hematology, Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, New Hampshire; Division of Hematology, Lady Davis Carmel Medical Center, Haifa, Israel.
American Journal of Hematology
|October 16, 2013
Summary
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder diagnosed using advanced tests. These tests detect small PNH cell populations, aiding treatment decisions for patients with hemolytic anemia and thrombosis.
Area of Science:
- Hematology
- Genetics
- Immunology
Background:
- Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder.
- It is characterized by acquired somatic mutations in the PIG-A gene within hematopoietic stem cells (HSC).
- This leads to complement-mediated hemolysis of red blood cells due to reduced glycosyl phosphatidylinositol-anchored proteins.
Purpose of the Study:
- To review diagnostic tests for Paroxysmal nocturnal hemoglobinuria (PNH).
- To highlight the importance of accurate diagnosis in patients with hemolytic anemia and thrombosis.
- To discuss the role of diagnostic tests in guiding PNH therapy.
Main Methods:
- Review of current diagnostic methodologies for PNH.
- Discussion of advanced tests for detecting small PNH cell populations.
- Evaluation of tests for monitoring disease progression and treatment response.
Main Results:
- Latest generation tests enable detection of very small PNH cell populations.
- Diagnostic tests are crucial for initiating therapy with Eculizumab, anticoagulation, or HSC transplant.
- Accurate diagnosis aids in managing non-immune hemolytic anemia and venous thrombosis associated with PNH.
Conclusions:
- Advanced diagnostic tests significantly improve the detection and management of PNH.
- Timely and accurate diagnosis is essential for effective therapeutic interventions.
- The review provides clinicians with an overview of available diagnostic tools for PNH.
