Bleeding in carriers of hemophilia
ABSTRACT A wide range of factor VIII and IX levels is observed in heterozygous carriers of hemophilia as well as in noncarriers. In female carriers, extreme lyonization may lead to low clotting factor levels. We studied the effect of heterozygous hemophilia carriership on the occurrence of bleeding symptoms. A postal survey was performed among most of the women who were tested for carriership of hemophilia in the Netherlands before 2001. The questionnaire included items on personal characteristics, characteristics of hemophilia in the affected family members, and carrier testing and history of bleeding problems such as bleeding after tooth extraction, bleeding after tonsillectomy, and other operations. Information on clotting factor levels was obtained from the hospital charts. Logistic regression was used to assess the relation of carrier status and clotting factor levels with the occurrence of hemorrhagic events. In 2004, 766 questionnaires were sent, and 546 women responded (80%). Of these, 274 were carriers of hemophilia A or B. The median clotting factor level of carriers was 0.60 IU/mL (range, 0.05-2.19 IU/mL) compared with 1.02 IU/mL (range, 0.45-3.28 IU/mL) in noncarriers. Clotting factor levels from 0.60 to 0.05 IU/mL were increasingly associated with prolonged bleeding from small wounds and prolonged bleeding after tooth extraction, tonsillectomy, and operations. Carriers of hemophilia bleed more than other women, especially after medical interventions. Our findings suggest that not only clotting factor levels at the extreme of the distribution, resembling mild hemophilia, but also mildly reduced clotting factor levels between 0.41 and 0.60 IU/mL are associated with bleeding.
- SourceAvailable from: onlinelibrary.wiley.com[Show abstract] [Hide abstract]
ABSTRACT: For nearly 50 years, the goal of the World Federation of Hemophilia (WFH) has been to achieve 'Treatment for All' patients with inherited bleeding disorders, regardless of where they live. With proper diagnosis, management and care, people with bleeding disorders can live perfectly healthy lives. Without treatment, the reality is that many will die young or, if they survive, suffer joint damage that leaves them with permanent disabilities. Only about 25% of the estimated 400 000 people with haemophilia worldwide receive adequate treatment. The percentage is far lower for those with von Willebrand Disease (VWD) and the rarer bleeding disorders. The achievements of the WFH to close the gap in care for people with bleeding disorders are measureable over time by using three key indicators; the difference in the estimated and actual number of people known with bleeding disorders, the amount of treatment products needed versus that available, and the number of people born with bleeding disorders and the number who reach adulthood. There are five essential elements to achieve a sustainable national care programme: ensuring accurate laboratory diagnosis, achieving government support, improving the care delivery system, increasing the availability of treatment products, and building a strong national patient organization.British Journal of Haematology 06/2011; DOI:10.1111/j.1365-2141.2011.08765.x · 4.96 Impact Factor
Article: Symptomatic carriers of hemophilia
- [Show abstract] [Hide abstract]
ABSTRACT: Most cases of severe inherited defects of hemostasis will be diagnosed early in life, however, moderate and mild bleeding disorders, either coagulation factor deficiencies or disorders of primary hemostasis, may not be detected. Children presenting with mild bleeding symptoms can pose a significant diagnostic challenge, as the bleeding symptoms with which they present, such as recurrent epistaxis or bruising, are frequent among healthy children. Thus, the clinical distinction between normal children and those with mild/moderate bleeding disorders can be complex. The first step in the diagnosis of bleeding disorders, therefore, is the identification of whether a child has significant bleeding symptoms. Useful in this regard is a recently described, validated, standardized pediatric bleeding questionnaire. Identification of a family history of bleeding is also important, and the severity of bleeding symptoms of family members could be quantitated with a validated, standardized bleeding questionnaire. If a bleeding disorder is suspected based on a personal and/or family bleeding history, specific laboratory testing is needed for attaining a diagnosis. The screening tests for coagulation factor deficiencies are considered reliable and are routinely available. However, for primary hemostatic defects, the various screening tests have not yet proven to be reliable and referral for a specialized hematology consultation and specific laboratory testing is needed. Perhaps a Bayes theorem approach, combining the personal and family bleeding history with the results of a screening test for a primary hemostatic defect would prove to be useful in the identification of those children who will most benefit from additional testing.