In excess of 200 people with hemophilia (PWH) and their families have received genetic counseling (GC) at the Hemophilia Comprehensive Care Centre at Charlotte Maxeke Johannesburg Academic Hospital. However, very few of their at-risk female relatives have attended GC to discuss their reproductive risks and options, or their potential bleeding risks. Limited research has been conducted internationally on factors influencing uptake of GC and testing amongst female relatives of PWH. This prospective study aimed to explore the factors that influence the uptake of GC and testing by female relatives of PWH. An open-ended semi-structured interview schedule was developed. Participants included female relatives of PWH who at least had a family member who had received GC. Seventeen participants were interviewed; 7 who had GC previously and 10 who had not. All participants who had previously received GC found the service helpful and were mothers referred because their sons had hemophilia. Of those who had not had GC, possible deterrents included: being unaware of GC service, focus in clinic on PWH and not potential carriers, misunderstood risks related to hemophilia and carrier status, fear of finding out carrier status, and non-disclosure in families. Most participants were unaware of potential bleeding risks for carriers. The information will be used to provide a better service to female relatives of PWH with a goal being to set up a dedicated hemophilia carrier clinic.
An open, non-randomized trial of continuous infusion therapy was conducted involving five patients with severe haemophilia A who required factor VIII (FVIII) prophylaxis for elective surgery. This was preceded by a 24-h preoperative pharmacokinetic study to characterize the pharmacokinetic parameters of each individual patient following a bolus dose of the intermediate-purity product. A retrospective matched control group was identified to allow for comparisons of FVIII usage between bolus and continuous infusion administration. A loading dose of FVIII was administered preoperatively, and the continuous infusion was started at the end of surgery and continued for 5 days. The patients' FVIII levels, vital signs, and infusion sites were monitored on a daily basis. The clearance was re-calculated on a daily basis using the FVIII activity of that day to adjust the infusion rate to achieve the desired FVIII level. The mean (CV%) pharmacokinetic parameters estimated preoperatively by noncompartmental analysis were: clearance 3.2 mL kg-1 h-1 (35.5%), volume of distribution 52.1 mL kg-1 (40.2%), mean residence time 17.4 h (23.3%), and half-life 12.7 h (23.6%). A progressive decrease in the clearance of FVIII from a mean of 3.1 mL kg-1 h-1 to 2.0 mL kg-1 h-1 (P = 0.125) over the first 5 days was observed. A therapeutically acceptable level of FVIII was systematically achieved, with the only complication being frequent thrombophlebitis. On average the patients used 19% less FVIII when compared with matched historical controls (P = 0.25). This method was found to be safe and effective in haemophilia A patients undergoing elective surgery procedures.
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