Detection of CD55 and/or CD59 deficient red cell populations in patients with aplastic anaemia, myelodysplastic syndromes and myeloproliferative disorders

Abstract

Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired clonal stem cell disorder characterized by intravascular haemolysis, venous thrombosis, marrow hypoplasia, frequent episodes of infection, and rarely leukaemic conversion. At the cellular level, PNH is characterized by the decrease or absence of glycosylphosphatidylinositol (GPI)-anchored molecules, such as CD55 and CD59, from the cell surface. PNH-like clones have been described in various haematological disorders. The link between PNH and aplastic anaemia (AA) has been established but the relationship of PNH with myelodysplastic syndromes (MDS) or myeloproliferative disorders (MPD) remains unclear. In this study, the presence of CD55 and/or CD59 defective (PNH-like) red cell populations was evaluated in 21 patients with AA, 133 with MDS, 197 with MPD, 7 with PNH and in 121 healthy blood donors using the Sephacryl Gel Test microtyping system. Red cell populations deficient in both molecules CD55 and CD59 were detected in 33.3% of AA patients, in 16.5% of MDS patients (50% with hypoplastic bone marrow), in 14.2% of MPD patients (more often in essential thrombocythemia, 21.2%) and in all PNH patients. CD55 deficient red cell populations were found in 14.2% of patients with AA, 12.7% of patients with MDS and 21.3% of patients with MPD. CD59 deficient populations were found in 9.5% of AA patients, 2.2% of MDS patients and 2% of MPD patients. These results indicate an association between PNH, AA and MDS or even between PNH and MPD. Further investigation is necessary to work out the mechanisms of this association, and to define classification criteria for borderline cases, where diagnosis is difficult.

High frequency of several PIG-A mutations in patients with aplastic anemia and myelodysplastic syndrome

“…4 Recently, several researchers reported that 15-88.6% of untreated and/or treated AA patients have GPIdeficient cells [5][6][7][8][9][10][11][12][13][14] as do 10-23% of MDS patients. 12,[15][16][17] The proportions of GPI-deficient cells in AA and MDS patients varied greatly (0.003-99%) and were usually lower than those in PNH patients. [5][6][7][8][9][10][11][12][13][14][15][16][17] In addition, PIG-A mutations have partially been reported in patients with AA, 11,18 AA/PNH, 3,19 and MDS.…”

“…12,[15][16][17] The proportions of GPI-deficient cells in AA and MDS patients varied greatly (0.003-99%) and were usually lower than those in PNH patients. [5][6][7][8][9][10][11][12][13][14][15][16][17] In addition, PIG-A mutations have partially been reported in patients with AA, 11,18 AA/PNH, 3,19 and MDS. 15,17 However, it could not be ruled out that these AA and MDS patients analyzed for PIG-A gene abnormality are actually PNH, because the AA and MDS patients had 2.4-28.5% and 1.19-22% of GPI-negative erythrocytes, respectively.…”

Paroksysmal nattlig hemoglobinuri ved Oslo universitetssykehus 2000 – 10

“…To av pasientene med sykdommen var diagnostisert med kronisk myeloproliferativ sykdom (myelofibrose). Paroksysmal nattlig hemoglobinuri assosiert med kronisk myeloproliferativ sykdom er sjeldent, men det er beskrevet tidligere (17).…”

O papel das proteínas reguladoras do complemento CD55/CD59 em células de sangue periférico de pacientes com lúpus eritematoso sistêmico

“…CD55 and CD59 deficiency has been studied in other diseases and correlated with its severity. [29][30][31][32][33][34][35][36] Yamaguchi et al 37 showed that 28.6% of the patients with aplastic anemia (AA) and 27.8% of the patients with myelodysplasia syndrome (MDS) presented a poor population of CD59 in erythrocytes. Wang et al 38 observed a significant CD55 and CD59 reduction in 52% of neutrophils in patients with AA not treated.…”