How common is paroxysmal nocturnal hemoglobinuria?
PNH is believed to affect males and females in equal numbers, although some studies show a slight female preponderance. The prevalence is estimated to be between 0.5-1.5 per million people in the general population. The disorder has been described in many racial groups and has been identified in all areas of the world.
Is paroxysmal nocturnal hemoglobinuria a rare disease?
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood. The disease is characterized by destruction of red blood cells, blood clots, and impaired bone marrow function. PNH is closely related to aplastic anemia.
Why does paroxysmal nocturnal hemoglobinuria occur at night?
For some time, paroxysmal nocturnal hemoglobinuria (PNH) has been known to result from somatic mutations in the PIGA gene, which encodes phosphatidylinositol glycan class A (PIGA). These mutations result in hematopoietic stem cells that are deficient in glycosyl-phosphatidylinositol anchor protein (GPI-AP).
Which is a typical finding in paroxysmal nocturnal hemoglobinuria?
Most commonly, in patients with paroxysmal nocturnal hemoglobinuria (PNH), pallor suggests anemia; fever suggests infections; and bleeding, such as mucosal bleeding or skin ecchymoses, suggests thrombocytopenia similar to that in aplastic anemia.
What is a hemoglobinuria?
Definition. Hemoglobinuria is the presence of hemoglobin in the urine; it is associated with red to amber colored transparent urine that remains pigmented after centrifugation.
How do hemoglobinuria and myoglobinuria differ?
Although both myoglobinuria and hemoglobinuria may cause a tea-colored appearance of the urine, and although both cause positive results on the urine dipstick for blood, myoglobinuria may be differentiated from hemoglobinuria by performing a series of simple tests.
How do hematuria hemoglobinuria and myoglobinuria differ with regard to the appearance of urine and serum?
Hematuria pro- duces a reddish sediment in spun urine samples. Red or brown urine with a negative dipstick result for blood indicates a dye in the urine. Hemoglobin produces a reddish or brown color- ation in the spun serum, whereas myoglobin does not discolor the serum.
Which is the best way to differentiate between hematuria and hemoglobinuria?
If freshly collected urine from a patient with hematuria is centrifuged, red blood cells settle at the bottom of the tube, leaving a clear yellow urine supernatant. If the red color is due to hemoglobinuria, the urine sample remains clear red after centrifugation.