Frequency of paroxysmal nocturnal hemoglobinuria in patients attended in Belém, Pará, Brazil

Abstract

Background Paroxysmal nocturnal hemoglobinuria is a hematological disease with complex physiopathology. It is genetically characterized by a somatic mutation in the PIG-A gene (phosphatidylinositol glycan anchor biosynthesis, class A), in which the best known antigens are DAF (decay accelerating factor or CD55) and MIRL (membrane inhibitor of reactive lysis or CD59). Objective To determine the frequency of paroxysmal nocturnal hemoglobinuria in patients attended at the HEMOPA foundation from November 2008 to July 2009. Method Thirty patients, with ages ranging from two to 79 years old and suspected of having paroxysmal nocturnal hemoglobinuria were examined. All patients were immunophenotyped by flow cytometry for the CD5, CD59, CD16 and CD45 antigens. Results Paroxysmal nocturnal hemoglobinuria was identified in nine of the thirty patients investigated. Another 3 cases had inconclusive results with CD59-negative labeling only for neutrophils. The highest frequency of paroxysmal nocturnal hemoglobinuria patients (7/9) and inconclusive cases (2/3) were between 19 years old and 48 years old, with a median of 28 years. Conclusion These results show the importance of flow cytometry to identify cases in which patients are deficient in only one antigen (CD59).

Characteristics of paroxysmal nocturnal hemoglobinuria patients in Brazil: A retrospective administrative claims database analysis of PNH patients in Brazilian public healthcare system

“…A few studies have previously reported PNH case series in Brazil, mostly in single-center reports. In 2011, by Brito Jr. et al reported nine patients identified with PNH by flow cytometry in a sample of 30 suspected cases in the city of Belém, Pará [ 21 ]. At the 2019 American Society of Hematology annual meeting, Yamakawa et al presented data from 109 patients with a PNH clone treated at two centers in the city of São Paulo, SP, of which 56 had hemolytic disease [ 22 ].…”

COVID19 infection in a patient with paroxysmal nocturnal hemoglobinuria

“…PNH can occur at any age, but it is generally diagnosed between third and fifth decades. [2][3][4][5] Patients experience intravascular hemolysis, smooth muscle dystonia, renal failure, arterial and pulmonary hypertension, recurrent infectious diseases, and an increased risk of notably dreadful thrombotic complications. [6] The diagnosis of PNH is made by means of clinical findings and laboratory tests to confirm the degree of hemolysis (haptoglobin, lactate dehydrogenase, direct Coombs test, reticulocyte count and total bilirubin and bilirubin fraction) and deficiency of anchored proteins of the complement system (CD55, CD59, and FLAER) in granulocytes (CD15, CD33, and CD24) and monocytes (CD14 and CD64) by flow cytometry, the gold standard method.…”

“…As regards sex, in Europe, PNH is more common in women, whereas in Asia it is more common in men. PNH can occur at any age, but it is generally diagnosed between third and fifth decades [2–5] . Patients experience intravascular hemolysis, smooth muscle dystonia, renal failure, arterial and pulmonary hypertension, recurrent infectious diseases, and an increased risk of notably dreadful thrombotic complications [6] …”