title: Long-term FVII substitution in a preterm infant with severe gastrointestinal bleeding and FVII deficiency due to a homozygous donor splice mutation IVS4+1G-->A.
abstract: Congenital FVII deficiency is a rare bleeding disorder. Clinical complications are similar to those seen in hemophilia A, and an increased incidence of intracerebral hemorrhage related to birth trauma has been reported. The authors report on an infant who presented at the second day of life with melaena and hematemesis caused by congenital FVII deficiency with minimal activity of 4%. A homozygous mutation IVS4+G-->A, formerly described in 2 siblings, who died of brain hemorrhage within the first month of life, was identified. Severe bleeding events were prevented with prophylactic treatment. Early identification of the underlying mutation helps to assess the risk of hemorrhage and prevent severe bleeding by prophylactic FVII therapy.
authors.affiliation: Department for Pediatric Oncology, Hematology and Immunology, Heinrich-Heine-University, Dusseldorf, Germany. hennewig@med.uni-duesseldorf.de
authors.forename: U
authors.initials: U
authors.lastname: Hennewig
authors.forename: S
authors.initials: S
authors.lastname: Eisert
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: D T
authors.initials: DT
authors.lastname: Schneider
authors.forename: U
authors.initials: U
authors.lastname: Göbel
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D005167:Factor VII / Q000627:therapeutic use*; D005168:Factor VII Deficiency / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*; D006471:Gastrointestinal Hemorrhage / Q000188:drug therapy* / Q000209:etiology; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D047928:Premature Birth
chemical_list: D005167:Factor VII