Printable factfile
Patients have recurrent hemolytic anemia, thrombosis and recurrent cerebral infarctions. Studies of four GPI-anchored proteins which are typically lost in
paroxysmal nocturnal hemoglobinuria revealed normal levels of all except for
CD59.
CD59 was absent from the surface of his erythrocytes and fibroblasts. Erythrocytes are highly susceptible to complement-mediated lysis.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- Fresh frozen plasma is used for emergent replacement of complements components. Supportive therapy is used for complement deficiencies. Prophylactic antibiotics for the infections.
- Complement deficiency, eMedicine
- Complement deficiency, eMedicine