{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T16:58:39Z","timestamp":1771952319088,"version":"3.50.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"Yunnan Province-Level Research Project of Qujing Central Hospital","award":["2022YJKTY07"],"award-info":[{"award-number":["2022YJKTY07"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82002223"],"award-info":[{"award-number":["82002223"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Shanghai Natural Science Foundation General Program","award":["24ZR1463300"],"award-info":[{"award-number":["24ZR1463300"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"DOI":"10.1007\/s00277-026-06853-0","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T03:18:08Z","timestamp":1770175088000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Activated partial thromboplastin time prolongation without hemorrhagic dienhesis: a study of a chinese family coexisting with hereditary KNG1 p.Arg240 mutation and --SEA\/\u03b1\u03b1 genotype thalassemia"],"prefix":"10.1007","volume":"105","author":[{"given":"Zhiyao","family":"Bai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayi","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanling","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiqin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengxiao","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,2,4]]},"reference":[{"issue":"6","key":"6853_CR1","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1111\/ejh.13394","volume":"104","author":"KL Rasmussen","year":"2020","unstructured":"Rasmussen KL, Philips M, Tripodi A, Goetze JP (2020) Unexpected, isolated activated partial thromboplastin time prolongation: A practical mini-review. Eur J Haematol 104(6):519\u2013525. https:\/\/doi.org\/10.1111\/ejh.13394","journal-title":"Eur J Haematol"},{"issue":"7","key":"6853_CR2","doi-asserted-by":"publisher","first-page":"864","DOI":"10.4065\/82.7.864","volume":"82","author":"AH Kamal","year":"2007","unstructured":"Kamal AH, Tefferi A, Pruthi RK (2007) How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults. Mayo Clin Proc 82(7):864\u2013873 https:\/\/doi.org\/10.4065\/82.7.864","journal-title":"Mayo Clin Proc"},{"issue":"2","key":"6853_CR3","doi-asserted-by":"publisher","first-page":"914","DOI":"10.5694\/j.1326-5377.1962.tb20949.x","volume":"49","author":"KERR CB","year":"1962","unstructured":"KERR CB (1962) Modern blood coagulation theory and its clinical aplication. Med J Aust 49(2):914\u2013919","journal-title":"Med J Aust"},{"issue":"1","key":"6853_CR4","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1002\/ajh.23285","volume":"88","author":"O Tcherniantchouk","year":"2013","unstructured":"Tcherniantchouk O, Laposata M, Marques MB (2013) The isolated prolonged PTT. Am J Hematol 88(1):82\u201385. https:\/\/doi.org\/10.1002\/ajh.23285","journal-title":"Am J Hematol"},{"issue":"2","key":"6853_CR5","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/j.jtha.2022.11.011","volume":"21","author":"A Adenaeuer","year":"2023","unstructured":"Adenaeuer A, Barco S, Trinchero A et al (2023) Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence. J Thromb Haemost 21(2):237\u2013254. https:\/\/doi.org\/10.1016\/j.jtha.2022.11.011","journal-title":"J Thromb Haemost"},{"key":"6853_CR6","doi-asserted-by":"publisher","first-page":"110877","DOI":"10.1016\/j.clinbiochem.2025.110877","volume":"136","author":"X Lv","year":"2025","unstructured":"Lv X, Li P, Gui Y et al (2025) KNG1 mutations (c.618 T\u2009>\u2009G and c.1165C\u2009>\u2009T) cause disruption of the Cys206-Cys218 disulfide bond and Truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency. Clin Biochem 136:110877. https:\/\/doi.org\/10.1016\/j.clinbiochem.2025.110877","journal-title":"Clin Biochem"},{"issue":"3","key":"6853_CR7","doi-asserted-by":"publisher","first-page":"264","DOI":"10.3343\/alm.2020.40.3.264","volume":"40","author":"D Jeong","year":"2020","unstructured":"Jeong D, Goo JY, Kim HK, Chong SY, Kang MS (2020) The first Korean case of High-Molecular-Weight kininogen Deficiency, with a novel Variant, c.488delG, in the KNG1 gene. Ann Lab Med 40(3):264\u2013266. https:\/\/doi.org\/10.3343\/alm.2020.40.3.264","journal-title":"Ann Lab Med"},{"issue":"4","key":"6853_CR8","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1007\/s11239-020-02088-6","volume":"50","author":"J Yang","year":"2020","unstructured":"Yang J, Fan L, Qiao Y, Zhao Y, Zhu T (2020) Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C\u2009>\u2009T nonsense variant in a large Chinese family. J Thromb Thrombolysis 50(4):989\u2013994. https:\/\/doi.org\/10.1007\/s11239-020-02088-6","journal-title":"J Thromb Thrombolysis"},{"issue":"6","key":"6853_CR9","doi-asserted-by":"publisher","first-page":"1296","DOI":"10.1182\/blood.V75.6.1296.1296","volume":"75","author":"H Hayashi","year":"1990","unstructured":"Hayashi H, Ishimaru F, Fujita T, Tsurumi N, Tsuda T, Kimura I (1990) Molecular genetic survey of five Japanese families with high-molecular-weight kininogen deficiency. Blood 75(6):1296\u20131304","journal-title":"Blood"},{"issue":"2","key":"6853_CR10","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1055\/s-0037-1615675","volume":"85","author":"SJ Davidson","year":"2001","unstructured":"Davidson SJ, Burman JF, Rutherford LC, Keogh BF, Yacoub MH (2001) High molecular weight kininogen deficiency: a patient who underwent cardiac surgery. Thromb Haemost 85(2):195\u2013197","journal-title":"Thromb Haemost"},{"issue":"11","key":"6853_CR11","doi-asserted-by":"publisher","first-page":"5062","DOI":"10.1182\/blood-2006-12-060616","volume":"109","author":"T Shigekiyo","year":"2007","unstructured":"Shigekiyo T, Miyagi J, Shirakami A, Shibata H, Tsukai K, Aihara K (2007) Isolated high-molecular-weight kininogen deficiency: a novel frameshift mutation in exon 10. Blood 109(11):5062\u20135063. https:\/\/doi.org\/10.1182\/blood-2006-12-060616","journal-title":"Blood"},{"issue":"3","key":"6853_CR12","doi-asserted-by":"publisher","first-page":"253","DOI":"10.2169\/internalmedicine.53.0737","volume":"53","author":"N Fukushima","year":"2014","unstructured":"Fukushima N, Itamura H, Wada H et al (2014) A novel frameshift mutation in exon 4 causing a deficiency of high-molecular-weight kininogen in a patient with Splenic infarction. Intern Med 53(3):253\u2013257. https:\/\/doi.org\/10.2169\/internalmedicine.53.0737","journal-title":"Intern Med"},{"issue":"5","key":"6853_CR13","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.1172\/jci108009","volume":"55","author":"H Saito","year":"1975","unstructured":"Saito H, Ratnoff OD, Waldmann R, Abraham JP (1975) Fitzgerald trait: deficiency of a hitherto unrecognized Agent, Fitzgerald Factor, participating in Surface-Mediated reactions of Clotting, Fibrinolysis, generation of Kinins, and the property of diluted plasma enhancing vascular permeability (PF\/Dil). J Clin Invest 55(5):1082\u20131089. https:\/\/doi.org\/10.1172\/jci108009","journal-title":"J Clin Invest"},{"issue":"7873","key":"6853_CR14","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","volume":"596","author":"J Jumper","year":"2021","unstructured":"Jumper J, Evans R, Pritzel A et al (2021) Highly accurate protein structure prediction with alphafold. Nature 596(7873):583\u2013589. https:\/\/doi.org\/10.1038\/s41586-021-03819-2","journal-title":"Nature"},{"issue":"7873","key":"6853_CR15","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1038\/s41586-021-03828-1","volume":"596","author":"K Tunyasuvunakool","year":"2021","unstructured":"Tunyasuvunakool K, Adler J, Wu Z et al (2021) Highly accurate protein structure prediction for the human proteome. Nature 596(7873):590\u2013596. https:\/\/doi.org\/10.1038\/s41586-021-03828-1","journal-title":"Nature"},{"issue":"1","key":"6853_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1182\/blood.V70.1.1.1","volume":"70","author":"AP Kaplan","year":"1987","unstructured":"Kaplan AP, Silverberg M (1987) The coagulation-kinin pathway of human plasma. Blood 70(1):1\u201315","journal-title":"Blood"},{"issue":"2","key":"6853_CR17","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1055\/s-0038-1647057","volume":"60","author":"RW Colman","year":"1988","unstructured":"Colman RW, M\u00fcller-Esterl W (1988) Subcommittee on contact activation. Nomenclature of kininogens. Thromb Haemost 60(2):340\u2013341","journal-title":"Thromb Haemost"},{"issue":"10","key":"6853_CR18","doi-asserted-by":"publisher","first-page":"3819","DOI":"10.1182\/blood.V90.10.3819","volume":"90","author":"RW Colman","year":"1997","unstructured":"Colman RW, Schmaier AH (1997) Contact system: a vascular biology modulator with anticoagulant, profibrinolytic, antiadhesive, and Proinflammatory attributes. Blood 90(10):3819\u20133843","journal-title":"Blood"},{"issue":"2","key":"6853_CR19","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1042\/cs0650121","volume":"65","author":"PY Wong","year":"1983","unstructured":"Wong PY, Williams GH, Colman RW (1983) Studies on the renin-angiotensin system in a kininogen-deficient individual. Clin Sci (Lond) 65(2):121\u2013126. https:\/\/doi.org\/10.1042\/cs0650121","journal-title":"Clin Sci (Lond)"},{"issue":"3","key":"6853_CR20","first-page":"166","volume":"9","author":"Y Pancione","year":"2013","unstructured":"Pancione Y, Fumi M, Sale S, Rocco V (2013) Carenza Di Chininogeno ad Alto peso molecolare e test globali dell\u2019emostasi: Descrizione Di Un Caso clinico. La Rivista Italiana Della medicina Di laboratorio -. Italian J Lab Med 9(3):166\u2013169","journal-title":"Italian J Lab Med"},{"issue":"4","key":"6853_CR21","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1016\/j.ajhg.2010.02.016","volume":"86","author":"LM Houlihan","year":"2010","unstructured":"Houlihan LM, Davies G, Tenesa A et al (2010) Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time. Am J Hum Genet 86(4):626\u2013631. https:\/\/doi.org\/10.1016\/j.ajhg.2010.02.016","journal-title":"Am J Hum Genet"},{"issue":"Suppl 1","key":"6853_CR22","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1111\/ijlh.13885","volume":"44","author":"CL Harteveld","year":"2022","unstructured":"Harteveld CL, Achour A, Arkesteijn S et al (2022) The hemoglobinopathies, molecular disease mechanisms and diagnostics. Int J Lab Hematol 44(Suppl 1):28\u201336. https:\/\/doi.org\/10.1111\/ijlh.13885","journal-title":"Int J Lab Hematol"},{"key":"6853_CR23","doi-asserted-by":"publisher","first-page":"101165","DOI":"10.1016\/j.blre.2023.101165","volume":"64","author":"KM Musallam","year":"2024","unstructured":"Musallam KM, Cappellini MD, Coates TD et al (2024) \u0391lpha-thalassemia: A practical overview. Blood Rev 64:101165. https:\/\/doi.org\/10.1016\/j.blre.2023.101165","journal-title":"Blood Rev"},{"issue":"9","key":"6853_CR24","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1002\/ajh.27006","volume":"98","author":"KM Musallam","year":"2023","unstructured":"Musallam KM, Lombard L, Kistler KD et al (2023) Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps. Am J Hematol 98(9):1436\u20131451. https:\/\/doi.org\/10.1002\/ajh.27006","journal-title":"Am J Hematol"}],"container-title":["Annals of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-026-06853-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00277-026-06853-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-026-06853-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T16:03:32Z","timestamp":1771949012000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00277-026-06853-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,4]]},"references-count":24,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,3]]}},"alternative-id":["6853"],"URL":"https:\/\/doi.org\/10.1007\/s00277-026-06853-0","relation":{},"ISSN":["1432-0584"],"issn-type":[{"value":"1432-0584","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,4]]},"assertion":[{"value":"16 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 February 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study has been approved by the Medical Ethics Committee of Qujing Central Hospital in Yunnan Province (Approval No.: 2024-048(Science)-01, Qujing, Yunnan, China).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from the subject involved in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The consent to publish was obtained from the subject involved in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"72"}}