Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Paroxysmal nocturnal hemoglobinuria

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.

Management

Eculizumab seems to be a new quite effective medicament.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
Aplastic anemia
Autoimmune lymphoproliferative syndrome 5
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
Familial hemophagocytic lymphohistiocytosis
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
PIGA
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency
X-linked lymphoproliferative syndrome 2

References:

1.

Araten DJ et al. (1999) Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals.

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2.

Ueda E et al. (1992) Deficient surface expression of glycosylphosphatidylinositol-anchored proteins in B cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

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3.

Hu R et al. (2005) PIG-A mutations in normal hematopoiesis.

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4.

None (2008) Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.

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5.

Ware RE et al. (1994) Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria.

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6.

Bessler M et al. (1994) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

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7.

Takahashi M et al. (1993) Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

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8.

Takeda J et al. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

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9.

Nagarajan S et al. (1995) Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia.

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10.

Savoia A et al. (1996) Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.

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11.

Luzzatto L et al. (1997) Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?

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12.

Brodsky RA et al. (1997) Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.

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13.

Nishimura J et al. (1999) Paroxysmal nocturnal hemoglobinuria: An acquired genetic disease.

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14.

Horikawa K et al. (2002) Frequent detection of T cells with mutations of the hypoxanthine-guanine phosphoribosyl transferase gene in patients with paroxysmal nocturnal hemoglobinuria.

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15.

Fujimi A et al. (2002) A patient with paroxysmal nocturnal haemoglobinuria in whom granulocyte colony-stimulating factor administration resulted in improvement of recurrent enterocolitis and its associated haemolytic attacks.

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16.

Mahoney JF et al. (1992) Defective glycosylphosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria granulocytes.

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17.

Hirose S et al. (1992) Synthesis of mannosylglucosaminylinositol phospholipids in normal but not paroxysmal nocturnal hemoglobinuria cells.

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18.

Hillmen P et al. (2004) Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria.

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19.

van den Heuvel-Eibrink MM et al. (2005) Childhood paroxysmal nocturnal haemoglobinuria (PNH), a report of 11 cases in the Netherlands.

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20.

None (1989) Paroxysmal nocturnal hemoglobinuria: the biochemical defects and the clinical syndrome.

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21.

Hillmen P et al. (1995) Natural history of paroxysmal nocturnal hemoglobinuria.

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22.

Bessler M et al. (1994) Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.

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23.

Yeh ET et al. (1994) Paroxysmal nocturnal hemoglobinuria and the glycosylphosphatidylinositol anchor.

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24.

None (1996) Epidemiology of PNH.

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25.

Socié G et al. (1996) Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. French Society of Haematology.

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26.

Orphanet article

Orphanet ID 447 [^]
27.

OMIM.ORG article

Omim 300818 [^]
28.

Wikipedia article

Wikipedia EN (Paroxysmal_nocturnal_hemoglobinuria) [^]
Update: May 10, 2019