Abstract | OBJECTIVES: 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.
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Authors | Alfiya Mukaddam, Rucha Patil, Anshul Jadli, S Chandrakala, Kanjaksha Ghosh, Shrimati Shetty |
Journal | American journal of clinical pathology
(Am J Clin Pathol)
Vol. 143
Issue 5
Pg. 755-7
(May 2015)
ISSN: 1943-7722 [Electronic] England |
PMID | 25873512
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright© by the American Society for Clinical Pathology. |
Chemical References |
- BBeta fibrinogen
- Fibrinogens, Abnormal
- fibrinogen Mumbai
- Fibrinogen
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Topics |
- Adult
- Afibrinogenemia
(complications, genetics, physiopathology)
- Diagnosis, Differential
- Exons
(genetics)
- Female
- Fibrinogen
(genetics)
- Fibrinogens, Abnormal
(genetics)
- Hemorrhage
(etiology)
- Hepatic Veins
(physiopathology)
- Homozygote
- Humans
- Mutation, Missense
- Portal Vein
(physiopathology)
- Sequence Analysis, DNA
- Splenic Vein
(physiopathology)
- Thrombosis
(etiology, physiopathology)
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