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Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama
Author(s) -
Seki Masafumi,
Koh Katsuyoshi,
Inoue Takeshi,
Tomita Yuzo,
Kato Motohiro,
Shimizu Masaki,
Morishita Eriko,
Hanada Ryoji
Publication year - 2013
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24387
Subject(s) - medicine , frameshift mutation , prothrombin complex concentrate , prothrombin time , gastroenterology , mutation , pediatrics , surgery , warfarin , gene , genetics , biology , atrial fibrillation
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 F2 gene, who was started on prophylactic administration. Pediatr Blood Cancer 2013; 60: 503–505. © 2012 Wiley Periodicals, Inc.