Hemophilia evaluation

The main goal of hemophilia treatment is to prevent bleeding episodes and their long-term complications. Clinicians should evaluate patients every 6 to 12 months for the following ... 

The investigators evaluated the safety of their nonviral somatic-cell gene therapy system, which they call transkaryotic implantation, in six patients with severe hemophilia. The procedure involved isolation of dermal fibroblasts from the patients upper arms. The fibroblasts were then transfected with a factor VIII genebearing plasmid. Cells that expressed factor VIII were cloned, propagated, and implanted into the patients abdomens. This technique can be considered as a less invasive form of ex vivo gene therapy. 

Gill JC, Ottum M, Schwartz B. Evaluation of high concentration intranasal and intravenous desmopressin in pediatric patients with mild hemophilia A or mild-to-moderate type 1 von Willebrand disease. J Pediatr 2002 140(5) 595-9. 

Recent advances in molecular genetic analysis have greatly improved the accuracy of carrier status evaluation. Thus female relatives of patients with hemophilia who are at risk of being carriers for the disorder should be tested. Additionally, the appropriate factor level should be measured in female carriers to identify those with levels less than 0.3 units/mL (30%) who might themselves be at risk of bleeding. 

A. Shapiro, M. Tarantino, 1. Warrier, et al. Ongoing Evaluation of an Advanced Category Recombinant EVlll Processed Using a Plasma/ Albumin-Free Method, rAHF-PFM. Poster presented at National Hemophilia Foundation, Salt Lake City, November 6-8, 2003. 

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