
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Paroxysmal nocturnal hemoglobinuria causes
Introduction
Overview
Overview
Common causes of paroxysmal nocturnal hemoglobinuria include a somatic mutation in the PIGA gene. Other causes include mutations in genes of TET2, SUZ12, U2AF1, and JAK2.
Causes
Causes
Life-threatening Causes
- Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of paroxysmal nocturnal hemoglobinuria, however complications resulting from untreated disease name is common.
Genetic Causes
- Paroxysmal nocturnal hemoglobinuria is caused by a somatic mutation in the PIGA gene. The PIGA gene normally encodes phosphatidylinositol glycan class A.[1]
- Other gene mutations associated with paroxysmal nocturnal hemoglobinuria include the following genes:[2]
- TET2
- SUZ12
- U2AF1
- JAK2
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical/Poisoning | No underlying causes |
| Dental | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | No underlying causes |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
| Infectious Disease | No underlying causes |
| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | No underlying causes |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | No underlying causes |
References
References
- ↑ Brodsky RA (2014). “Paroxysmal nocturnal hemoglobinuria”. Blood. 124 (18): 2804–11. doi:10.1182/blood-2014-02-522128. PMC 4215311. PMID 25237200.
- ↑ Shen W, Clemente MJ, Hosono N, Yoshida K, Przychodzen B, Yoshizato T; et al. (2014). “Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria”. J Clin Invest. 124 (10): 4529–38. doi:10.1172/JCI74747. PMC 4191017. PMID 25244093.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
