Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal disease characterized by chronic intravascular hemolysis, cytopenia due to bone marrow failure and increased tendency to thrombosis. All patients with PNH studied so far have a somatic mutation in an X-linked gene, called PIG-A (phosphatidyl inositol glycan complementation group A), which encodes for a protein involved in the biosy...

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired disease caused by clonal expansion of one or more hematopoietic stem cell (HSC) lines due to a somatic mutation of the phosphatidylinositol glycan anchor (PIG-A) gene located on Xp22.1. PNH incidence is 1.5-2 cases per million of the population per year. PNH can affect multiple systems in the body and requires multidisciplinary clini...

The association of paroxysmal nocturnal hemoglobinuria (PNH) and aplastic anemia (AA) raises the yet unresolved questions as to whether these two disorders are different forms of the same disease. We compared two groups of patients with respect to cytogenetic features, glycosylphosphatidylinositol (GPII-linked protein expression, protein C/ protein Slthrombomodulinlantithrombin 111 activity, an...

LTHOUGH great strides have been made in the past decade in both cytogenetics and biochemical genetics, the location of genes on the 44 autosomes has remained unknown. The experiments of nature in which an additional chromosome-21 is present and where a portion of this chromosome has been deleted have provided, for the first time, a clue to the possible location of some autosomal genes. The stud...

A persistent elevation of the fetal hemoglobin in the low-density, reticulocyte-rich cell frac(Hgb F) level (5%-15%) was observed in a tion. In contrast, the highest Hgb F levels were 22-yr-old white male with paroxysmal nocfound in the high-density, reticulocyte-poor turnal hemoglobinuria (PNH). Acid treatment fraction. Further evidence for the segregation of the peripheral smear (Betke-Kleiha...

A 44-year-old woman, who had been diagnosed with paroxysmal nocturnal hemoglobinuria, presented with chest pain. Angiography revealed critical distal left main stenosis and proximal stenoses of the left anterior descending and circumflex arteries. Prophylactic antibiotics, infusion of blood products and mannitol intraoperatively, and antithrombotic therapy postoperatively ensured a good outcome...

Kidney failure secondary to renal hemosiderosis has been reported in diseases with intravascular hemolysis, like paroxysmal nocturnal hemoglobinuria, and valvular heart diseases. We present here a case of hemosiderin induced acute tubular necrosis secondary to intravascular hemolysis from Clostridium difficile infection with possible role of supratherapeutic INR. We discuss the pathophysiology,...