{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T18:31:04Z","timestamp":1764873064179,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Dis Child Fetal Neonatal Ed"],"published-print":{"date-parts":[[1999,5,1]]},"abstract":"<jats:p>Congenital factor XIII deficiency is a severe bleeding disorder that is inherited as an autosomal recessive trait. The condition is commonly due to absence of the factor XIII-A subunit protein in the plasma. The case of a baby is reported who showed typical clinical features of factor XIII-A deficiency, including recurrent bleeding from the umbilical stump and a life threatening haemorrhage after circumcision. Family studies were performed and molecular analysis, using a Short Tandem Repeat (STR) marker closely linked to the A subunit gene, allowed antenatal exclusion diagnosis to be undertaken in a subsequent pregnancy. The case highlights the importance of seeking a family history of bleeding disorders before surgery in the neonatal period, particularly if the parents are consanguineous.<\/jats:p>","DOI":"10.1136\/fn.80.3.f238","type":"journal-article","created":{"date-parts":[[2009,4,8]],"date-time":"2009-04-08T11:39:47Z","timestamp":1239190787000},"page":"F238-F239","source":"Crossref","is-referenced-by-count":17,"title":["Prenatal diagnosis in factor XIII-A deficiency: Figure 1"],"prefix":"10.1136","volume":"80","author":[{"given":"Caroline J","family":"Killick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol J","family":"Barton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shazia","family":"Aslam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham","family":"Standen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1999,5,1]]},"reference":[{"key":"2025090504031080000_80.3.F238.1","doi-asserted-by":"publisher","DOI":"10.1016\/0268-960X(93)90010-2"},{"key":"2025090504031080000_80.3.F238.2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1490"},{"key":"2025090504031080000_80.3.F238.3","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.15.4306"},{"key":"2025090504031080000_80.3.F238.4","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/S0021-9258(19)43022-6","article-title":"Relationships of the catalytic properties of human plasma and platelet transglutaminase (activated blood coagulation factor XIII) to their subunit structures.","volume":"249","author":"Chung","year":"1974","journal-title":"J Biol Chem"},{"key":"2025090504031080000_80.3.F238.5","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1182\/blood.V82.1.145.bloodjournal821145","article-title":"Two genetic defects in a patient with complete deficiency of the b subunit for coagulation factor XIII.","volume":"82","author":"Hashiguchi","year":"1993","journal-title":"Blood"},{"key":"2025090504031080000_80.3.F238.6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.16.5829"},{"key":"2025090504031080000_80.3.F238.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1995.tb05376.x"},{"key":"2025090504031080000_80.3.F238.8","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.2263043.x"},{"key":"2025090504031080000_80.3.F238.9","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199610)53:2<77::AID-AJH4>3.0.CO;2-0"},{"key":"2025090504031080000_80.3.F238.10","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1111\/j.1365-2141.1993.tb03221.x","article-title":"Factor XIII A Bristol 1: detection of a nonsense mutation (Arg171\u2192stop codon) in factor XIII A subunit deficiency.","volume":"85","author":"Standen","year":"1993","journal-title":"Br J Haematol"},{"key":"2025090504031080000_80.3.F238.11","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1055\/s-0038-1650679","article-title":"Application of HUMF13A01 (AAAG)n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency.","volume":"76","author":"Kangsadalampai","year":"1996","journal-title":"Thromb Haemostas"}],"container-title":["Archives of Disease in Childhood - Fetal and Neonatal Edition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/fn.80.3.F238","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T11:03:17Z","timestamp":1757070197000},"score":1,"resource":{"primary":{"URL":"https:\/\/fn.bmj.com\/lookup\/doi\/10.1136\/fn.80.3.F238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,5,1]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1999,5,1]]},"published-print":{"date-parts":[[1999,5,1]]}},"alternative-id":["10.1136\/fn.80.3.F238"],"URL":"https:\/\/doi.org\/10.1136\/fn.80.3.f238","relation":{},"ISSN":["1359-2998","1468-2052"],"issn-type":[{"type":"print","value":"1359-2998"},{"type":"electronic","value":"1468-2052"}],"subject":[],"published":{"date-parts":[[1999,5,1]]}}}