Genetic and environmental effects in paroxysmal nocturnal hemoglobinuria: this little PIG-A goes "Why? Why? Why?".

نویسندگان

  • N S Young
  • J P Maciejewski
چکیده

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Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell disorder resulting from mutations in an X-linked gene, PIG-A, that encodes an enzyme required for the first step in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. PIG-A mutations result in absent or decreased cell surface expression of all GPI-anchored proteins. Although many of the clinical manifesta...

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Paroxysmal Nocturnal Hemoglobinuria (PNH) — Symptoms and Diagnosis

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...

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Paroxysmal Nocturnal Hemoglobinuria (PNH) — Symptoms and Diagnosis

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...

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Intestinal perforation in a patient with paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias.Acute abdominal pain is one of the PNH clinical manifestations due to venous thrombosis of intra-abdominal sites including hepatic, portal, mesenteric, and splenic veins.Eculizumaband allogeneic bone marrow transplantation (BMT) arethe only w...

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Paroxysmal Nocturnal Hemoglobinuria (PNH) — Symptoms and Diagnosis

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired defect in the myeloid stem cell lineage and can be seen as a rare, chronic, morbid disorder. Formally known as Marchiafava-Micheli syndrome, it received its current name as a descriptive term for the disease. Individuals afflicted with the disease wake up to dark, “cola” colored urine due to RBC breakdown and release of hemoglobin in the ...

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عنوان ژورنال:
  • The Journal of clinical investigation

دوره 106 5  شماره 

صفحات  -

تاریخ انتشار 2000