Send to:

Choose Destination
See comment in PubMed Commons below
Leuk Lymphoma. 2006 Jul;47(7):1215-21.

PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis.

Author information

  • 1Johns Hopkins University School of Medicine, Division of Hematology, Baltimore, MD, USA.


PIG-A is an X-linked gene that is essential for the first step in the biosynthesis of glycosylphosphatidyl-inositol (GPI) anchors. A rare clonal hematopoietic stem cell disease, paroxysmal nocturnal hemoglobinuria (PNH), is caused by mutations in the PIG-A gene. PNH is an acquired disease that may arise de novo or emanate from aplastic anemia. PNH blood cells have an absence or marked deficiency of all GPI anchored proteins. Interestingly, rare GPI anchor deficient blood and marrow cells that harbor PIG-A mutations can also be found in most healthy controls. This review examines the clinical and biological relevance of PIG-A mutations in PNH, aplastic anemia and healthy controls.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Informa Healthcare
    Loading ...
    Write to the Help Desk