{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T12:06:52Z","timestamp":1773317212191,"version":"3.50.1"},"reference-count":93,"publisher":"American Society of Hematology","issue":"20","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,11,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The genes encoding the coagulation factor proteins were among the first human genes to be characterized over 25 years ago. Since then, significant progress has been made in the translational application of this information for the 2 commonest severe inherited bleeding disorders, hemophilia A and B. For these X-linked disorders, genetic characterization of the disease-causing mutations is now incorporated into the standard of care and genetic information is used for risk stratification of treatment complications. With electronic databases detailing &gt;2100 unique mutations for hemophilia A and &gt;1100 mutations for hemophilia B, these diseases are among the most extensively characterized inherited diseases in humans. Experience with the genetics of the rare bleeding disorders is, as expected, less well advanced. However, here again, electronic mutation databases have been developed and provide excellent guidance for the application of genetic analysis as a confirmatory approach to diagnosis. Most recently, progress has also been made in identifying the mutant loci in a variety of inherited platelet disorders, and these findings are beginning to be applied to the genetic diagnosis of these conditions. Investigation of patients with bleeding phenotypes without a diagnosis, using genome-wide strategies, may identify novel genes not previously recognized as playing a role in hemostasis.<\/jats:p>","DOI":"10.1182\/blood-2013-05-505511","type":"journal-article","created":{"date-parts":[[2013,10,12]],"date-time":"2013-10-12T03:54:35Z","timestamp":1381550075000},"page":"3423-3431","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":54,"title":["Genetic sequence analysis of inherited bleeding diseases"],"prefix":"10.1182","volume":"122","author":[{"given":"Flora","family":"Peyvandi","sequence":"first","affiliation":[{"name":"Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, and Department of Pathophysiology and Transplantation, University of Milan, Luigi Villa Foundation, Milan, Italy;"}]},{"given":"Tom","family":"Kunicki","sequence":"additional","affiliation":[{"name":"CHOC Children\u2019s Hospital, Hematology Research, Orange, CA; and"}]},{"given":"David","family":"Lillicrap","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, Queen\u2019s University, Kingston, Canada"}]}],"member":"234","reference":[{"issue":"5992","key":"2019111818445463500_B1","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/312326a0","article-title":"Characterization of the human factor VIII gene.","volume":"312","author":"Gitschier","year":"1984","journal-title":"Nature"},{"issue":"21","key":"2019111818445463500_B2","doi-asserted-by":"crossref","first-page":"6461","DOI":"10.1073\/pnas.79.21.6461","article-title":"Isolation and characterization of a cDNA coding for human factor IX.","volume":"79","author":"Kurachi","year":"1982","journal-title":"Proc Natl Acad Sci USA"},{"issue":"16","key":"2019111818445463500_B3","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1056\/NEJM198710153171603","article-title":"An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. 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