title: Rare deletion from the fibrinogen Bβ gene in a patient with a provoked venous thrombotic event.
abstract: Hypodysfibrinogenemia is characterized by both a qualitative and quantitative deficiency of fibrinogen. Here we report a patient with remote history of bleeding and presents with provoked deep venous thrombosis associated with hypodysfibrinogenemia. Molecular studies identified the presence of fibrinogen Epsom, which was previously reported in a family with pregnancy associated bleeding. This case illustrates the difficulty in linking the genotype and phenotype in patients with defective fibrinogen.
authors.affiliation: Division of Hematology/Oncology, Department of Internal Medicine, The University of Texas Southwestern Medical Center at Dallas, USA. Yu-Min.Shen@UTSouthwestern.edu
authors.forename: Yu-Min
authors.initials: YM
authors.lastname: Shen
authors.forename: Ravi
authors.initials: R
authors.lastname: Sarode
authors.forename: Anil
authors.initials: A
authors.lastname: Bhogaraju
authors.forename: Stephen
authors.initials: S
authors.lastname: Brennan
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D056148:Chromatography, Reverse-Phase; D004252:DNA Mutational Analysis; D005340:Fibrinogen / Q000235:genetics*; D005838:Genotype; D006470:Hemorrhage / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion; D020246:Venous Thrombosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D044465:White People
chemical_list: C115499:BBeta fibrinogen; D005340:Fibrinogen