A rare autoimmune blood disorder with insidious onset and chronic course, marked by intravascular haemolytic anaemia usually with attacks of nocturnal paroxysmal haemoglobinuria. Because the excessive red cell destruction takes place mainly at night, the patient passes dark (red to black) urine in the morning. Attacks may be precipitated by infection, menstruation, blood transfusion, surgery, vaccination, injection of liver extracts, or administration of iron salts. It has been observed as early as five years of age but is more common between the ages of 20 and 40 years. It occurs in both sexes, with males somewhat more susceptible.
Other features include weakness, abdominal and lumbar pain, jaundice with pallor and yellowish discoloration of the skin and mucous membranes, heart murmurs, splenomegaly, and hemosiderinuria. Pathological findings include systemic venous or portal thrombosis, normoblastic bone marrow hyperplasia, hepatomegaly with necrosis, hemosiderosis, and massive iron deposits in the kidneys.
It was first described by Paul Strübing on November 30, 1881, in a lecture for habilitation as Dozent in Greifswald. The lecture was published the following year. The condition was then described in 1911 by Ettore Marchiafava and A. Nazari. Marchiafava in 1928 and F. Micheli in 1931 made comprehensive summarisations
- P. Strübing:
Deutsche medizinische Wochenschrift, Stuttgart, 1882, 8: 1-3 and 17-21.
- E. Marchiafava, A. Nazari:
Nuovo contributo allo studio degli itteri cronici emolitici.
Il Policlinico, Sezione medica, 1911, 18: 241-254.
- E. Marchiafava:
Anemia emolitica con emosiderinuria perpetua.
Policlinico, Sezione medica, 1928, 35: 105-117.
- F. Micheli:
Uno caso di anemia emolitica con emosiderinuria perpetua.
Accad Med Torino, 1931, 13: 7: 148.
- J. Marks:
The Marchiafava-Micheli syndrome (Paroxysmal nocturnal haemoglobinuria).
The Quarterly Journal of Medicine, Oxford, 1949, 18: 105-121.