نتایج جستجو برای: hemophilia a
تعداد نتایج: 13433047 فیلتر نتایج به سال:
A rearrangement of exon 13 in the factor VIII gene has been identified as the causative mutation in 32% of Northern Italian patients with mild hemophilia A. We have demonstrated that all share a common haplotype, thus suggesting that the mutation likely occurred in a single ancestor. To date, no predominant mutation has been identified in mild hemophilia A, therefore it would be extremely usefu...
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this magnitude, and provide a proof of concept for ...
BACKGROUND Inhibitor antibody to exogenous Factor VIII (FVIII) is a major complication of hemophilia treatment. This study was conducted to determine the prevalence of inhibitor antibody directed against FVIII. METHODS From May 2010 to May 2011, 52 patients with severe hemophilia A admitted in Amirkola Children's Hospital were evaluated. Those who had abnormal mixing study, antibody against F...
Retrospective and prospective studies unambiguously show that prophylactic treatment of severe hemophilia A or B should be started as primary prophylaxis at 1-2 years' of age and ideally before the first joint bleed. The dose and dose frequency should be individually tailored depending on the goal of treatment, venous access and the bleeding phenotype. The circumstances during the first exposur...
The efficacy of using promptly frozen plasma samples in the diagnosis of the carrier state for hemophilia A was evaluated by simultaneous measurement of factor VIII acitivity and antigen in 20 normal women and 20 obligate carriers. Factor VIII antigen was measured by two methods, electroimmunoassay and immunoradiometric assay. When the factor VIII activity and antigen data were evaluated by reg...
*Van Creveldkliniek and †Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands; ‡Arthur Bloom Haemophilia Centre, School of Medicine, Cardiff University, Cardiff, United Kingdom; §INCT do Sangue Hemocentro Unicamp and ¶Faculty of Medical Sciences Unicamp, University of Campinas, Brazil; **Department of Haematology, Christian Medical Coll...
The aim of this study was to analyze the mutation pattern causing hemophilia A in a population from Southern Spain. Mutation analysis identified the mutation in 99 of the 109 unrelated patients enrolled in the Hemophilia Registry from Andalusia. About 54% of non-inversion mutations identified were previously unreported.
Hemophilia is a hemorrhagic disorder with sex-linked inherited pattern, characterized by an inability to amplify coagulation due deficiency in factor VIII (hemophilia A or classic) IX B). Sequencing of the genes involved hemophilia has provided description and record main mutations, as well correlation various degrees severity. Hemorrhagic manifestations are related levels circulating factor, m...
A trial of prophylactic replacement therapy in low dosage once a week is described in two patients with classical haemophilia and one patient with Christmas disease, using concentrates of factor VIII and factor IX respectively. The clinical effectiveness and complications of the therapy are assessed and discussed. It was concluded that the patient suffering from Christmas disease showed both ob...
Around one third of boys with severe hemophilia A develop inhibitors (neutralizing antibodies) against their therapeutic factor VIII product. This adverse effect may result in more life-threatening bleeding, disability, impaired quality of life, and costly care. We compared the incidence of inhibitors in boys treated with the three factor VIII products most used in France: one plasma-derived (F...
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