Bleeding in carriers of Hemophilia

Leiden University, Leyden, South Holland, Netherlands
Blood (Impact Factor: 10.45). 08/2006; 108(1):52-6. DOI: 10.1182/blood-2005-09-3879
Source: PubMed


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.

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    • "It’s defined prolonged bleeding after tooth extraction, when it lasts more than three hours after surgery (26). In a patient with disorders of hemostasis, even a routine dental treatment such as a tooth extraction, can cause life-threatening situations (27). "
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    ABSTRACT: The hemostasis alterations, either congenital or hereditary origin, and acquired, are circumstances that hinder oral care to patients who suffer them and also generates in the professional who has to attend, high stress. Bleeding control once established and dental treatment planning, both in the aspect of preparation, as the realization of the odonto-stomatological therapeutic, has suffered updates that do need to remember certain aspects of the care of these patients. But we must not forget that the hematologist or internist who controls the patient’s medical condition, is a cornerstone for the planning and implementation of treatment plans. We must also remember that, in certain circumstances, treatment should be performed in a hospital setting. In this review, we aim to provide the odonto-stomatologist guidance on how to address the problem and provide simple and updated guidelines to apply in the treatment of these people. Key words:Hemostasis disorder, oral care protocols, haemorrhagic and thrombotic disorders, haemophilia, von willebrand disease, desmopressin, purple, thrombocytopenia, thrombocytopathies.
    Full-text · Article · Oct 2013 · Medicina oral, patologia oral y cirugia bucal
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    • "The median clotting factor level in carriers is 50% (Rizza et al, 1975). Thus, half of the carriers are at increased risk of bleeding and, some estimates are higher (Mauser Bunschoten et al, 1988; WFH, 2005b; Plug et al, 2006). Based upon the WFH global estimate of 400 000 people worldwide with haemophilia, this means there are potentially 625 000– 2 000 000 carriers worldwide that could require on-going management by an HTC. "
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    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.
    Full-text · Article · Jun 2011 · British Journal of Haematology
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    • "If long-term expression of the defective coagulation factor at 2–3% of wild-type levels could be achieved, then a substantial reduction in the clinical manifestations of the disease would be expected (Herzog et al, 1999; Sarkar et al, 2000). Expression of greater than 30% of the wild-type level of the defective coagulation factor would result in a phenotypically normal patient under most circumstances (Pollak and High, 2001), although higher levels may be required in the face of haemostatic challenge (Plug et al, 2006). "
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    ABSTRACT: The ultimate goal of gene therapy is the replacement of a defective gene sequence with a corrected version to eliminate disease for the lifetime of the patient. This challenging task is not yet accomplished, however significant progress is evident. An initial spate of clinical trials attempting the treatment of haemophilia with gene transfer primarily resulted in the demonstration of good safety profiles, but without efficacy. Subsequent reengineering of vector plasmids and delivery systems resulted in markedly improved outcomes in animal models of the disease. The most recent clinical trial for the treatment of haemophilia B with gene transfer showed transient achievement of efficacy in the highest dose cohort tested, but also exposed a previously hidden barrier to the future success of these treatments. The progress and problems of gene therapies for haemorrhagic disorders will be discussed. This review will concentrate on approaches in or near clinical application.
    Preview · Article · Apr 2008 · British Journal of Haematology
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