{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:57:48Z","timestamp":1773727068642,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T00:00:00Z","timestamp":1682985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hemophilia is an inherited X\u2010linked bleeding disorder characterized by deficiencies of factors VIII or IX. Concomitant X chromosome disorders can impact bleeding phenotype, complicating timely diagnosis and disease management. Herein, we describe three cases of female and male pediatric patients with hemophilia A or B diagnosed between 6\u00a0days and 4\u00a0years old in the setting of skewed X chromosome inactivation, Turner syndrome, or Klinefelter syndrome. All of these cases had significant bleeding symptoms, and two patients required initiation of factor replacement therapy. One female patient developed a factor VIII inhibitor similar to that described in males with hemophilia A.<\/jats:p>","DOI":"10.1002\/pbc.30400","type":"journal-article","created":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T06:23:18Z","timestamp":1683094998000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single\u2010institution case series"],"prefix":"10.1002","volume":"70","author":[{"given":"Elizabeth","family":"Soffer","sequence":"first","affiliation":[{"name":"Department of Pediatrics Emory University  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karlene","family":"Coleman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Emory University  Atlanta Georgia USA"},{"name":"Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0122-9320","authenticated-orcid":false,"given":"Glaivy","family":"Batsuli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Emory University  Atlanta Georgia USA"},{"name":"Aflac Cancer and Blood Disorders Center of Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.13081"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa067659"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16964"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(22)00377-5"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.12364"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2016002923"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/rth2.12468"},{"issue":"2","key":"e_1_2_9_9_1","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X\u2010chromosome","volume":"14","author":"Lyon MF","year":"1962","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.14186"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S288256"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.13083"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22169074"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00742-4"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.15397"},{"issue":"5","key":"e_1_2_9_17_1","first-page":"467","article-title":"Male carrier of haemophilia A","volume":"46","author":"Williams VK","year":"2014","journal-title":"Pathology (Phila)"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2012.02818.x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-022-00618-w"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2257.2006.00810.x"},{"issue":"4","key":"e_1_2_9_21_1","first-page":"1379","article-title":"Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome","volume":"82","author":"Chuansumrit A","year":"1999","journal-title":"Thromb Haemost"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-236"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.30400","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T12:57:26Z","timestamp":1692536246000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.30400"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,2]]},"references-count":21,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/pbc.30400"],"URL":"https:\/\/doi.org\/10.1002\/pbc.30400","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,2]]},"assertion":[{"value":"2023-02-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e30400"}}