Paroxysmal Nocturnal Haemoglobinuria

Abstract

26 patients, 13 male and 13 female, with paroxysmal nocturnal haemoglobinuria (PNH) are described. The diagnosis was based on the finding of a positive Ham’s test. PNH developed in 4 patients with aplastic anaemia, and 3 patients with established PNH developed marrow hypoplasia during the course of the disease. In 2 cases autoimmune haemolysis was also present; this association has not been described previously. The majority of patients presented with anaemia and dark urine, or with evidence of thrombosis. A high index of suspicion was needed to avoid missing the diagnosis. Haemolytic crises were usually precipitated by infection, and renal failure requiring dialysis sometimes resulted; a positive direct antiglobulin test was often found at times of increased haemolysis. Thromboses were the most frequent complication, and when intra-abdominal vessels were affected, pain was particularly troublesome. The disease had a widely variable course; 4 patients made a complete recovery and 10 died, 8 from thrombotic complications and 2 from infections associated with marrow hypoplasia. Survival ranged from 1 year to 30 years and the median survival in those who died was 3.5 years.

High Incidence of Transiently Appearing Complement-Sensitive Bone Marrow Precursor Cells in Patients with Severe Aplastic Anemia - A Possible Role of High Endogenous IL-2 in Their Suppression

“…In the Western world there is an apparent increase of PNH since immunosuppression has become standard treatment for patients with severe aplastic anemia (SAA) who are not eligible for bone marrow transplantation (BMT) [2, 4]. The clinical course varies from spontaneous cure to rapid progression and death from thromboembolism or pancytopenia [5, 6, 7]. At the molecular level, PNH is characterized by mutation(s) in the PIG-A gene, which codes for the enzyme essential for the synthesis of the glycosyl-phosphatidylinositol (GPI) anchor, linking several surface proteins to the cell membrane.…”

MR of the kidneys, liver, and spleen in paroxysmal nocturnal hemoglobinuria

“…It is characterized by two major clinical features: chronic intravascular hemolysis with resulting gross hemoglobinuria and diffuse venous thrombosis [2,3]. Since the clinical course is variable, the diagnosis of PNH is often delayed or overlooked [2,3].…”

“…It is characterized by two major clinical features: chronic intravascular hemolysis with resulting gross hemoglobinuria and diffuse venous thrombosis [2,3]. Since the clinical course is variable, the diagnosis of PNH is often delayed or overlooked [2,3]. When this diagnosis is considered, it can be confirmed by laboratory tests including the sucrose hemolysis test, urine examination for hemosiderin, and the Ham acid hemolysis test [1,2].…”

Hematologic disorders and ischemic stroke. A selective review.

“…Stroke due to arterial occlusion has not been clearly documented. 148 Diagnosis is based on erythrocyte lysis during complement activation by acidification (Ham's test) or by lowering ionic strength (sucrose hemolysis test).…”