Document Detail


Factor V Leiden mutation investigated by amplification created restriction enzyme site (ACRES) in PNH patients with and without thrombosis.
MedLine Citation:
PMID:  9009443     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic hemolytic anemia characterized by intravascular hemolysis, often associated with neutropenia and thrombocytopenia. Venous thrombosis, including the Budd-Chiari syndrome, is one of the major complications of PNH, but not all PNH patients develop thrombosis. The basis for the high risk of thrombosis in PNH is not known. Recent reports have shown that Factor V Leiden mutation is a common cause of increased tendency to develop thrombosis. Fifty-six PNH patients were tested for Factor V Leiden mutation using Amplification Created Restriction Enzyme Site methods. PNH patients do not show an increased frequency of Factor V Leiden mutations.
Authors:
K Nafa; M Bessler; P Mason; T Vulliamy; P Hillmen; H Castro-Malaspina; L Luzzatto
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Haematologica     Volume:  81     ISSN:  0390-6078     ISO Abbreviation:  Haematologica     Publication Date:    1996 Nov-Dec
Date Detail:
Created Date:  1997-02-28     Completed Date:  1997-02-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417435     Medline TA:  Haematologica     Country:  ITALY    
Other Details:
Languages:  eng     Pagination:  540-2     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, Memorial Sloan Kettering Cancer Center, New York, NY 0021, USA. k-nafa@ski.mskcc.org
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MeSH Terms
Descriptor/Qualifier:
Factor V / genetics*
Hemoglobinuria, Paroxysmal / blood,  complications,  genetics*
Humans
Mutation*
Oligonucleotide Probes
Polymerase Chain Reaction
Thrombophlebitis / blood,  complications,  genetics*
Chemical
Reg. No./Substance:
0/Oligonucleotide Probes; 0/factor V Leiden; 9001-24-5/Factor V

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