Hemophilia - Recent Advances最新文献

{"title":"Genotype-Phenotype Heterogeneity in Haemophilia","authors":"Muhammad Tariq Masood Khan, A. Taj","doi":"10.5772/INTECHOPEN.81429","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.81429","url":null,"abstract":"Haemophilia was previously regarded as a classical example of Mendelian inheritance, with mutation in only a single gene (F8 or F9) causing the disease phenotype. The disease manifests complete penetrance. Studies, however, revealed the striking genetic and phenotypic heterogeneities of the disease. With further sophistication of clinical and molecular techniques, the disease was also found to have allele heterogeneity, phenotypic plasticity and variation in expressivity. The variations are more pronounced in F9 variants with five distinct phenotypes. All these phenomena advocate a rather complex genotype-phenotype relationship for the disease. A keen insight into the matter may unveil new avenues of therapeutics.","PeriodicalId":251172,"journal":{"name":"Hemophilia - Recent Advances","volume":"101 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121576932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introductory Chapter: Hemophilia","authors":"P. Abrol","doi":"10.5772/INTECHOPEN.84687","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.84687","url":null,"abstract":"Hemophilia disease is caused by deficiency of coagulation factors VIII and IX. Former is called hemophilia A (80–85%) whereas latter is labeled hemophilia B (10–15%). Hemophilia A and B are X-linked disorders, have common clinical presentation, with no racial predilection and are seen in all ethnic groups. The incidence is 1 in 5000 male births. A rare variety of hemophilia—hemophilia C or Rosenthal syndrome (factor XI deficiency) is seen in Jews of Ashkenazi descent. It is a milder form of hemophilia and because of autosomal transmission affects both the sexes. As per annual global surveys by WFH number of PWH (people with hemophilia) is approximately 400,000 [1].","PeriodicalId":251172,"journal":{"name":"Hemophilia - Recent Advances","volume":"64 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121644539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Issues in Women with Inherited Bleeding Disorders","authors":"A. Jaloma-Cruz, I. González-Ramos, Diana Ornelas-Ricardo, C. Juárez-Vázquez, H. Luna-Záizar","doi":"10.5772/INTECHOPEN.82119","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.82119","url":null,"abstract":"Various inherited bleeding disorders deserve careful medical management due to their implications in women’s health. In both hemophilia A and B, almost exclusively, males are affected while carrier females are generally asymptomatic. Nevertheless, carriers may present important bleeding tendencies, which can eventually constitute a serious threat to life, especially after surgery or postpartum. In addition, in rare but significant cases, some genetic mechanisms have been found to cause hemophilia in females. Aside from von Willebrand disease, which is the most widespread and better described hemorrhagic condition in women, platelet disorders and some rare clotting deficiencies cause a wide variety of mucocutaneous bleedings, menorrhagia, or postpartum bleeding, hence con-stituting an important health risk. A review of the genetic and pathophysiological aspects as well as main clinical complications of all these conditions will allow for preventive practices aimed at improving the quality of life of women with bleeding disorders.","PeriodicalId":251172,"journal":{"name":"Hemophilia - Recent Advances","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129552799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perioperative Management of Hemophilia A Using Recombinant Factor VIII in Patients Undergoing Major or Minor Surgery","authors":"A. Okamoto, Kenta Yamamoto, G. Eguchi, Y. Kanai, Terufumi Yamaguchi, Y. Maeda","doi":"10.1182/BLOOD-2018-99-115755","DOIUrl":"https://doi.org/10.1182/BLOOD-2018-99-115755","url":null,"abstract":"\u0000 [Introduction]\u0000 It has been known that Hemophilia needs careful management from the bleeding tendency in the perioperative period. In this study, we performed endoscopic nasal pituitary adenomatectomy for growth hormone-producing pituitary adenoma in patients with hemophilia A. There were no reports using efraloctocog alpha (ELOCTATE®, Bioverativ, Cambridge, MA, USA, rFVIIIFc) for perioperative management in major surgery, intracranial surgery, for a hemophilia A patient.\u0000 [Case]\u0000 A 28-year-old man admitted to our Hospital because of endoscopic nasal pituitary adenomasectomy for growth hormone-producing pituitary adenoma. rFVIIIFc was used as a management of hemophilia A at the perioperative period. And we created a regimen for administration of rFVIIIFc regarding the guidelines for hemostasis treatment for hemophilia patients without inhibitors (revised 2013) published by the Japan Thrombohemorrhagic Society. In our hospital, the results of factor VIII activity can not be obtained as an emergent examination, so we used APTT as an indicator.\u0000 [Result]\u0000 The surgery was terminated with 150 ml of intraoperative bleeding volume that was almost the same amount as expected bleeding volume. Despite a risk of nasal bleeding after surgery was expected, only a small amount of nasal bleeding was occurred twice. The course of factor VIII activity was also good with APTT.\u0000 [Conclusion]\u0000 We concluded that rFVIIIFc may be available reagent in perioperative management of intracranial surgery with hemophilia A without inhibitors. The advantage of perioperative management by the bolus administration method (=BI method, This involves repeated administration of a bolus injections.) using half-life extended drugs is that these drugs need to be administered intravenous injection only once a day, and such a treatment protocol is easy to perform at a hospital. Furthermore, the BI method is also economical as it reduces the amount and thus the cost of the drug, as compared with the continuous administration method (=CI method, A syringe pump continuously administers coagulation factors after an initial bolus administration.) using the existing coagulation factor preparations. For perioperative management using extended half-life drugs, we consider that further case studies are necessary to prepare dosing regimens. However, such drugs have the potential to impact not only periodic replacement therapy, but also perioperative management in hemophilia patients. As mentioned above, we feel that the extended half-life drugs have the potential to significantly impact hemophilia treatment.\u0000 \u0000 \u0000 No relevant conflicts of interest to declare.\u0000","PeriodicalId":251172,"journal":{"name":"Hemophilia - Recent Advances","volume":"178 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131854945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}