title: Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama.
abstract: 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.
authors.affiliation: Department of Hematology and Oncology, Saitama Children's Medical Center, Saitama, Japan. sepon0628@gmail.com
authors.forename: Masafumi
authors.initials: M
authors.lastname: Seki
authors.forename: Katsuyoshi
authors.initials: K
authors.lastname: Koh
authors.forename: Takeshi
authors.initials: T
authors.lastname: Inoue
authors.forename: Yuzo
authors.initials: Y
authors.lastname: Tomita
authors.forename: Motohiro
authors.initials: M
authors.lastname: Kato
authors.forename: Masaki
authors.initials: M
authors.lastname: Shimizu
authors.forename: Eriko
authors.initials: E
authors.lastname: Morishita
authors.forename: Ryoji
authors.initials: R
authors.lastname: Hanada
mesh_terms: D000328:Adult; D001483:Base Sequence; D001779:Blood Coagulation Factors / Q000627:therapeutic use*; D016368:Frameshift Mutation; D006801:Humans; D007020:Hypoprothrombinemias / Q000188:drug therapy* / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011516:Prothrombin / Q000235:genetics*
chemical_list: D001779:Blood Coagulation Factors; C025667:prothrombin complex concentrates; D011516:Prothrombin