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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency.

Severe factor X ( FX) deficiency is one of the severest inherited coagulation disorders. Clinical manifestations include umbilical cord, mucosal, joint and central nervous system bleeding. Four Irish children with severe FX deficiency presented with umbilical cord bleeding. One developed an intraperitoneal haemorrhage and another an intracranial bleed. Prophylaxis, using intermediate purity Factor IX concentrate, was commenced within the first month of life, necessitating the insertion of central venous access devices in two of the children. All children have normal joint function, suggesting that prophylaxis commenced early in life reduces the incidence of arthropathy and improves quality of life.[1]

References

  1. The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency. McMahon, C., Smith, J., Goonan, C., Byrne, M., Smith, O.P. Br. J. Haematol. (2002) [Pubmed]
 
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