{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T05:01:58Z","timestamp":1761541318481},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,8,22]],"date-time":"2016-08-22T00:00:00Z","timestamp":1471824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01 HL084086"],"award-info":[{"award-number":["R01 HL084086"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Through a cross\u2010sectional study design, the bleeding phenotype in the Amish in Indiana (IN) and Wisconsin (WI) was described using two different bleeding scores. von Willebrand factor (VWF) testing was performed and bleeding questionnaires from Centers for Disease Control and Prevention (CDC) and European MCMDM\u20101 (Tosetto bleeding score (BS)) were administered to the IN and WI cohort respectively. Seven hundred and seventy nine subjects were recruited, 17% were diagnosed with VWD based on Ristocetin cofactor, VWF:RCo\u2009&lt;\u200930 IU\/dl. Majority of the affected (AF), 67%, were tested and had a common mutation c.4120 C\u2009&gt;\u2009T. The WI AF were much younger at a mean age 15 years vs 26 years in IN AF cohort. The AF subjects had a median VWF:RCo of 13IU\/dl with a statistically significant higher median BS 1 versus 0 in the WI AF vs WI Unaffected (UA), 2 vs 1 in the IN AF vs IN UA, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01. Adults had a higher median BS compared to children in the WI and IN cohort, 2 vs 1 and 3 vs 1 respectively (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.05) but there was no statistically significant difference in the BS between males and females in either cohort. The common symptoms reported were epistaxis and gingival oozing. BS\u2009\u2265\u20093 and BS\u2009\u2265\u20094 were observed in 46% of AF IN and 16.6% of AF WI, respectively. There was significant variability in the bleeding phenotype, with an overall low BS in the affected Amish with VWD, despite a unifying mutation. Am. J. Hematol. 91:E431\u2013E435, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.24474","type":"journal-article","created":{"date-parts":[[2016,7,14]],"date-time":"2016-07-14T23:35:19Z","timestamp":1468539319000},"source":"Crossref","is-referenced-by-count":2,"title":["Variable bleeding phenotype in an Amish pedigree with von Willebrand disease"],"prefix":"10.1002","volume":"91","author":[{"given":"Sweta","family":"Gupta","sequence":"first","affiliation":[{"name":"Indiana Hemophilia and Thrombosis Center Indianapolis"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meadow","family":"Heiman","sequence":"additional","affiliation":[{"name":"Indiana Hemophilia and Thrombosis Center Indianapolis"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Duncan","sequence":"additional","affiliation":[{"name":"Indiana Hemophilia and Thrombosis Center Indianapolis"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesse","family":"Hinckley","sequence":"additional","affiliation":[{"name":"University of Colorado Denver United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Di Paola","sequence":"additional","affiliation":[{"name":"University of Colorado Denver United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy D","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Indiana Hemophilia and Thrombosis Center Indianapolis"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2006.01847.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V69.2.454.454"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80384-1"},{"key":"e_1_2_9_5_1","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1055\/s-0038-1642471","article-title":"A revised classification of von Willebrand disease","volume":"71","author":"Sadler JE.","year":"1994","journal-title":"Thromb Haemost"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12249"},{"key":"e_1_2_9_7_1","first-page":"P1472","article-title":"A missense mutation in exon 28 (C4120T) of the von Willebrand factor gene is the cause for von Willebrand disease in a large Amish pedigree","volume":"3","author":"Paola J","year":"2005","journal-title":"J Thromb Haemost"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH08-08-0500"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2008.01666.x"},{"key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1182\/blood.V108.11.176.176","article-title":"A genome\u2010wide linkage scan of a large Amish pedigree with von Willebrand disease (VWD) identified several chromosomal regions that may contain potential modifiers of von Willebrand factor (VWF) levels and disease variability","volume":"108","author":"Paola J","year":"2006","journal-title":"Blood"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.16"},{"key":"e_1_2_9_12_1","first-page":"217","article-title":"Screening questions to identify women with von Willebrand disease","volume":"57","author":"Drews CD","year":"2002","journal-title":"J Am Med Womens Assoc (1972)"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00215a036"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.157801"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90491-C"},{"key":"e_1_2_9_16_1","unstructured":"International Genome Sample Resource (IGSR). 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