Paroxysmal Nocturnal Hemoglobinuria: From Bench to Bed

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia with highly variable clinical symptoms making the diagnosis and prediction of its outcome difficult. It is caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked phosphatidylinositol glycan class A (PIGA) gene that results in deficiency of the glycosylphosphatidylinositol anchor structure responsible for fixing a wide spectrum of proteins particularly CD55 and CD59. The clinical features of this disease arise as a result of complement-mediated hemolysis in unprotected red cells, leukocytes, and platelets as well as the release of free hemoglobin. Patients may present with a variety of clinical manifestations, such as anemia, thrombosis, kidney disease, smooth muscle dystonias, abdominal pain, dyspnea, and extreme fatigue. PNH is an outstanding example of how an increased understanding of pathophysiology may directly improve clinical symptoms and treat disease-associated complications when we inhibit the terminal complement cascade. This topic will discuss PNH overview to assist specialists looking after PNH patients.

ErythrocytesÓ? osmotic fragility test with a standard Abbe refractometer

“…In summary, we illustrate in this work the viability of simple and rapid procedure to determine the standard OF curve of blood samples and provides information related to the integrity of the erythrocyte membrane, which can be an indicator of the health status of people associated with different pathologies such as: thalassemia 15,16 , macro or micro spherocytosis 17,18 , and paroxysmal nocturnal hemoglobinuria 19,20 , among others 21 . One of its main advantages over other techniques such as flow cytometry is that it is a rapid and economical test so that it does not require large material resources and can open the way to develop new robust instruments for the early detection of different blood pathologies.…”

Myelodysplastic syndrome from theoretical review to clinical application view

“…Hypercellularity and trilineage dysplastic changes are the most common finding in BM examination, however, in a small number of patients’ BM may be hypocellular which may be confused with aplastic anemia and paroxysmal nocturnal hemoglobinuria (PNH), which may need to evaluate CD55 and CD59 level. 21…”

Case Report: Paroxysmal Nocturnal Hemoglobinuria

“…2, 3 Here, we discuss the presentation of a 59-year-old male with PNH, strategies to diagnose this rare condition, and therapeutic challenges regarding anticoagulation in these patients.…”