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Updated: Apr 14, 2026
Experimental and Imaging Techniques for Examining Fibrin Clot Structures in Normal and Diseased States
Published on: April 1, 2015
Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen Mumbai mutation
Alfiya Mukaddam1, Rucha Patil1, Anshul Jadli1
1From the National Institute of Immunohaematology (ICMR), Departments of Thrombosis and Haemostasis and.
Objectives:
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.
Insights
Afibrinogenemia, a rare bleeding disorder, can paradoxically cause thrombosis. This case highlights a patient with both bleeding and venous thrombosis, emphasizing the need for individualized management strategies for afibrinogenemia patients.
Area of Science:
- Hematology
- Genetics
Background:
- Afibrinogenemia is a rare congenital bleeding disorder characterized by the absence of fibrinogen.
- Thrombosis is an uncommon complication of afibrinogenemia, often linked to thrombophilia or replacement therapy.
- Predicting bleeding versus thrombotic risk in afibrinogenemia patients is challenging.
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