Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama1. Issue 3 (14th November 2012)

• Record Type: Journal Article
• Authors: Seki, Masafumi; Koh, Katsuyoshi; Inoue, Takeshi; Tomita, Yuzo; Kato, Motohiro; Shimizu, Masaki; Morishita, Eriko; Hanada, Ryoji
• Is Part Of: Pediatric blood & cancer. Volume 60:Issue 3(2013:Mar.)
• Page Start: 503
• Page End: 505
• Publication Date: 2012-11-14
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24387
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>Prothrombin (Factor II, FII) deficiency is an extremely rare autosomal recessive condition with an estimated incidence of 1:2 million. As severe and life‐threatening bleeding is rare in FII deficiency, on demand therapy with administration of prothrombin complex concentrates (PCCs) or fresh frozen plasma is generally performed, and prophylactic therapy for FII deficiency has been reported in only three cases. Thus, its optimal dosage and schedule has remained uncertain. Here we report a case of severe prothrombin deficiency with a novel frameshift mutation of the <italic>F2</italic> gene, who was started on prophylactic administration. Pediatr Blood Cancer 2013; 60: 503–505. © 2012 Wiley Periodicals, Inc.</p> </abstract>