{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:20:49Z","timestamp":1788236449170,"version":"build-2803163510"},"reference-count":41,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100021016","name":"Istituto di Ricovero e Cura a Carattere Scientifico","doi-asserted-by":"publisher","award":["101157011"],"award-info":[{"award-number":["101157011"]}],"id":[{"id":"10.13039\/100021016","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jthjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Thrombosis and Haemostasis"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.jtha.2025.06.005","type":"journal-article","created":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T11:39:50Z","timestamp":1749555590000},"page":"2763-2775","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["The genetic spectrum of rare bleeding disorders"],"prefix":"10.1016","volume":"23","author":[{"given":"Samin","family":"Mohsenian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Seidizadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Cairo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Palla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzia","family":"Menegatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-9864","authenticated-orcid":false,"given":"Flora","family":"Peyvandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jtha.2025.06.005_bib1","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1056\/NEJM199203193261205","article-title":"Molecular and cellular biology of blood coagulation","volume":"326","author":"Furie","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jtha.2025.06.005_bib2","article-title":"Molecular basis of rare congenital bleeding disorders","volume":"59","author":"orgalaleh","year":"2023","journal-title":"Blood Rev"},{"key":"10.1016\/j.jtha.2025.06.005_bib3","doi-asserted-by":"crossref","first-page":"25881","DOI":"10.1074\/jbc.M502160200","article-title":"LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway","volume":"280","author":"Zhang","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jtha.2025.06.005_bib4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1750-1172-5-21","article-title":"Hereditary combined deficiency of the vitamin K-dependent clotting factors","volume":"5","author":"Napolitano","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jtha.2025.06.005_bib5","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1055\/s-0029-1225757","article-title":"Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management","volume":"35","author":"Peyvandi","year":"2009","journal-title":"Semin Thromb Hemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib6","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1182\/blood-2004-02-0595","article-title":"Recessively inherited coagulation disorders","volume":"104","author":"Mannucci","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.06.005_bib7","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/j.1538-7836.2012.04653.x","article-title":"Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders","volume":"10","author":"Peyvandi","year":"2012","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib8","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1111\/hae.14773","article-title":"Diagnostic utility of bleeding assessment tools in congenital fibrinogen deficiencies","volume":"29","author":"Mohsenian","year":"2023","journal-title":"Haemophilia"},{"key":"10.1016\/j.jtha.2025.06.005_bib9","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1111\/hae.14561","article-title":"Diagnosis of rare bleeding disorders","volume":"28","author":"Meijer","year":"2022","journal-title":"Haemophilia"},{"key":"10.1016\/j.jtha.2025.06.005_bib10","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1111\/j.1365-2516.2006.01263.x","article-title":"Genetic diagnosis of haemophilia and other inherited bleeding disorders","volume":"12","author":"Peyvandi","year":"2006","journal-title":"Haemophilia"},{"key":"10.1016\/j.jtha.2025.06.005_bib13","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1111\/j.1538-7836.2003.t01-1-00553.x","article-title":"Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias","volume":"2","author":"Acharya","year":"2004","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib14","doi-asserted-by":"crossref","first-page":"5025","DOI":"10.1182\/bloodadvances.2020002740","article-title":"Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study","volume":"4","author":"Saes","year":"2020","journal-title":"Blood Adv"},{"key":"10.1016\/j.jtha.2025.06.005_bib15","doi-asserted-by":"crossref","first-page":"e195","DOI":"10.1111\/j.1365-2516.2011.02730.x","article-title":"Correlating clinical manifestations with factor levels in rare bleeding disorders: a report from Southern India","volume":"18","author":"Viswabandya","year":"2012","journal-title":"Haemophilia"},{"key":"10.1016\/j.jtha.2025.06.005_bib19","doi-asserted-by":"crossref","first-page":"1938","DOI":"10.1111\/j.1538-7836.2012.04844.x","article-title":"Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity","volume":"10","author":"Peyvandi","year":"2012","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib21","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1182\/bloodadvances.2023012186","article-title":"Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database","volume":"8","author":"Mohsenian","year":"2024","journal-title":"Blood Adv"},{"key":"10.1016\/j.jtha.2025.06.005_bib22","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1182\/blood-2014-08-532820","article-title":"Rare bleeding disorders: diagnosis and treatment","volume":"125","author":"Palla","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.06.005_bib23","doi-asserted-by":"crossref","DOI":"10.1016\/j.bcmd.2024.102837","article-title":"Rare bleeding disorders: real-world data from a Spanish tertiary hospital","volume":"106","author":"Mart\u00ednez\u2013Carballeira","year":"2024","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.jtha.2025.06.005_bib24","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1055\/s-0033-1348948","article-title":"Congenital prothrombin deficiency: an update","volume":"39","author":"Lancellotti","year":"2013","journal-title":"Semin Thromb Hemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib25","doi-asserted-by":"crossref","DOI":"10.1016\/j.rpth.2024.102460","article-title":"Rare inherited coagulation disorders: no longer orphan and neglected","volume":"8","author":"Mohsenian","year":"2024","journal-title":"Res Pract Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib26","doi-asserted-by":"crossref","first-page":"3423","DOI":"10.1182\/blood-2013-05-505511","article-title":"Genetic sequence analysis of inherited bleeding diseases","volume":"122","author":"Peyvandi","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.06.005_bib27","doi-asserted-by":"crossref","first-page":"e30","DOI":"10.1055\/a-1987-5978","article-title":"Analysis of 363 genetic variants in F5 via an interactive web database reveals new insights into FV deficiency and FV Leiden","volume":"7","author":"Efthymiou","year":"2023","journal-title":"TH Open"},{"key":"10.1016\/j.jtha.2025.06.005_bib28","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1055\/s-0033-1349224","article-title":"Parahemophilia: new insights into factor v deficiency","volume":"39","author":"Thalji","year":"2013","journal-title":"Semin Thromb Hemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib29","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1160\/TH14-07-0629","article-title":"Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency","volume":"113","author":"Asselta","year":"2015","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib30","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.3390\/jcm11041083","article-title":"Heterogeneity of genotype\u2013phenotype in congenital hypofibrinogenemia\u2014a review of case reports associated with bleeding and thrombosis","volume":"11","author":"Brunclikova","year":"2022","journal-title":"J Clin Med"},{"key":"10.1016\/j.jtha.2025.06.005_bib31","doi-asserted-by":"crossref","first-page":"3685","DOI":"10.1182\/blood.V98.13.3685","article-title":"Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A \u03b1-chain gene are not associated with the decay of the mutant mRNAs","volume":"98","author":"Asselta","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.06.005_bib32","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1182\/blood.V96.2.773.014k07_773_775","article-title":"Homozygous truncation of the fibrinogen A \u03b1-chain within the coiled coil causes congenital afibrinogenemia","volume":"96","author":"Fellowes","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.06.005_bib33","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: the next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jtha.2025.06.005_bib34","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/BF00219173","article-title":"Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)","volume":"89","author":"Marchetti","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.jtha.2025.06.005_bib35","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1111\/eci.12511","article-title":"Frequency of the p.Gly262Asp mutation in congenital factor X deficiency","volume":"45","author":"Epcacan","year":"2015","journal-title":"Eur J Clin Invest"},{"key":"10.1016\/j.jtha.2025.06.005_bib36","article-title":"Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype\u2013phenotype relationship","volume":"4","author":"Tiscia","year":"2017","journal-title":"Hum Genome Var"},{"key":"10.1016\/j.jtha.2025.06.005_bib37","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/humu.9206","article-title":"Phenotype\u2013genotype characterization of 10 families with severe a subunit factor XIII deficiency","volume":"23","author":"Peyvandi","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jtha.2025.06.005_bib38","doi-asserted-by":"crossref","first-page":"5592","DOI":"10.1182\/blood-2007-10-113951","article-title":"Genotype\u2013phenotype correlation in combined deficiency of factor V and factor VIII","volume":"111","author":"Zhang","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.06.005_bib39","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/s41467-019-13624-1","article-title":"Rare copy number variants in over 100 000 European ancestry subjects reveal multiple disease associations","volume":"11","author":"Li","year":"2020","journal-title":"Nat Commun"},{"key":"10.1016\/j.jtha.2025.06.005_bib40","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/npp.2012.112","article-title":"DNA methylation and its basic function","volume":"38","author":"Moore","year":"2013","journal-title":"Neuropsychopharmacology"},{"key":"10.1016\/j.jtha.2025.06.005_bib41","series-title":"Molecular neurology","first-page":"1","article-title":"Genetics as a tool in neurology","author":"Johnson","year":"2007"},{"key":"10.1016\/j.jtha.2025.06.005_bib42","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/s41592-022-01730-w","article-title":"Method of the year: long-read sequencing","volume":"20","author":"Marx","year":"2023","journal-title":"Nat Methods"},{"key":"10.1016\/j.jtha.2025.06.005_bib43","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/978-1-0716-3358-8_15","article-title":"Long-range polymerase chain reaction","volume":"2967","author":"Kee","year":"2023","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.jtha.2025.06.005_bib44","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1111\/jth.14562","article-title":"A genome wide association study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process","volume":"17","author":"Thibord","year":"2019","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.jtha.2025.06.005_bib45","doi-asserted-by":"crossref","first-page":"2248","DOI":"10.1182\/blood.2023022596","article-title":"Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles","volume":"144","author":"Huffman","year":"2024","journal-title":"Blood"},{"key":"10.1016\/j.jtha.2025.06.005_bib46","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1161\/CIRCULATIONAHA.118.034532","article-title":"Genome-wide association transethnic meta-analyses identifies novel associations regulating coagulation factor VIII and von Willebrand factor plasma levels","volume":"139","author":"Sabater\u2013Lleal","year":"2019","journal-title":"Circulation"},{"key":"10.1016\/j.jtha.2025.06.005_bib47","doi-asserted-by":"crossref","first-page":"2115","DOI":"10.1016\/j.jtha.2024.05.006","article-title":"Application of genetic testing for the diagnosis of von Willebrand disease","volume":"22","author":"Seidizadeh","year":"2024","journal-title":"J Thromb Haemost"}],"container-title":["Journal of Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1538783625003630?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1538783625003630?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:02:18Z","timestamp":1788235338000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1538783625003630"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":41,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["S1538783625003630"],"URL":"https:\/\/doi.org\/10.1016\/j.jtha.2025.06.005","relation":{},"ISSN":["1538-7836"],"issn-type":[{"value":"1538-7836","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The genetic spectrum of rare bleeding disorders","name":"articletitle","label":"Article Title"},{"value":"Journal of Thrombosis and Haemostasis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jtha.2025.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 International Society on Thrombosis and Haemostasis. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}