title: Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen Mumbai mutation.
abstract: OBJECTIVE
  Thrombosis is rarely reported in cases of afibrinogenemia and is generally associated with thrombophilia or replacement therapy. Often, it is difficult to predict whether the patients will bleed or whether they are exposed to the risk of thrombosis.
  
  
  METHODS
  We report a patient with afibrinogenemia who presented with complete thrombosis of right hepatic, portal, and splenic veins and who described a lifelong history of bleeding. Direct sequencing of the three fibrinogen genes was performed to identify the mutation.
  
  
  RESULTS
  DNA sequencing showed the presence of a homozygous for G8017A substitution in exon 8 of the fibrinogen β-chain gene, resulting in a G434D missense mutation (Fibrinogen Mumbai).
  
  
  CONCLUSIONS
  Presence of both bleeding and thrombotic manifestations in a patient with afibrinogenemia in the presence of other associated risk factors warrants a very careful individualized approach in the management of patients with afibrinogenemia.
authors: From the National Institute of Immunohaematology (ICMR), Departments of Thrombosis and Haemostasis and.
authors: Alfiya
authors: A
authors: Mukaddam
authors: From the National Institute of Immunohaematology (ICMR), Departments of Thrombosis and Haemostasis and.
authors: Rucha
authors: R
authors: Patil
authors: From the National Institute of Immunohaematology (ICMR), Departments of Thrombosis and Haemostasis and.
authors: Anshul
authors: A
authors: Jadli
authors: Haemotology, KEM Hospital, Parel, Mumbai, India.
authors: S
authors: S
authors: Chandrakala
authors: From the National Institute of Immunohaematology (ICMR), Departments of Thrombosis and Haemostasis and.
authors: Kanjaksha
authors: K
authors: Ghosh
authors: From the National Institute of Immunohaematology (ICMR), Departments of Thrombosis and Haemostasis and shrimatishetty@yahoo.com.
authors: Shrimati
authors: S
authors: Shetty
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006470:Hemorrhage / Q000209:etiology; D006503:Hepatic Veins / Q000503:physiopathology*; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D011169:Portal Vein / Q000503:physiopathology*; D017422:Sequence Analysis, DNA; D013162:Splenic Vein / Q000503:physiopathology*; D013927:Thrombosis / Q000209:etiology* / Q000503:physiopathology
chemical_list: C115499:BBeta fibrinogen; D015241:Fibrinogens, Abnormal; C512567:fibrinogen Mumbai; D005340:Fibrinogen
keywords: Afibrinogenemia; Fibrinogen Mumbai; Thrombosis