Paroxysmal nocturnal haemoglobinuria

What it is

Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic anemia. Hemolytic anemia divides first into hereditary and acquired. The hereditary side holds membrane defects, that is hereditary spherocytosis and hereditary elliptocytosis, enzyme defects such as G6PD deficiency and pyruvate kinase, and hemoglobiopathies, qualitative and quantitative. The acquired side divides into immune and non-immune, and under non-immune come mechanical fragmentation syndrome, infections, chemical or physical damage, and abnormal membrane. PNH is the one listed under abnormal membrane, so it is acquired and non-immune, and not the same place as the hereditary membrane defects.

How it presents

The picture to hold on to is abdominal pain, dark urine and hepatic vein thrombosis with evidence of hemolytic anemia on laboratory exam.

PNH will cause thrombosis in the abdominal veins, so hemolytic anemia together with thrombosis of the hepatic vein points toward it.