Paroxysmal nocturnal hemoglobinuria (PNH) is a hematological disorder due to a defect in the glycosylphosphatidylinositol (GPI) anchor which is caused by somatic mutations of the PIGA gene. Nocturnal hemoglobinuria is the first symptom, but other hematological abnormalities up to a myelodysplastic syndrome might ensue.
Eculizumab seems to be a new quite effective medicament.
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Orphanet article Orphanet ID 447 |
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OMIM.ORG article Omim 300818 |
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Wikipedia article Wikipedia EN (Paroxysmal_nocturnal_hemoglobinuria) |