Congenital Afibrinogenemia With Coexisting Factor V Leiden Mutation Complicated by Budd-Chiari Syndrome: A Case Report. [PDF]
Congenital afibrinogenemia is a rare autosomal recessive bleeding disorder characterized by the complete absence of fibrinogen, a key protein in the coagulation cascade.
Boutari RA, Hsayan FI, Mallah F, Diab M.
europepmc +2 more sources
Hereditary afibrinogenemia: A literature review and clinical observations [PDF]
Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L.
E V Yakovleva +10 more
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Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria. [PDF]
The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone to both haemorrhagic and thrombotic complications. Predictive markers of thrombosis in afibrinogenemia patients are not existent.
Hadjali-Saichi S +8 more
europepmc +2 more sources
Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:10,00,000 [1, 2]. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encodes the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4 3.
I Islam +3 more
openaire +3 more sources
Congenital afibrinogenemia in a newborn
Introduction: Congenital afibrinogenemia is a rare coagulation disorder characterized by a deficiency in the fibrinogen molecule. Fibrinogen is a hexameric glycoprotein consisting of a polypeptide chain encoded by FGB, FGA, and FGG and is required for ...
Özay Mustafa +2 more
doaj +2 more sources
Isolated scalp hematoma: An unusual presentation of congenital afibrinogenemia
Background: Congenital fibrinogen disorder is a rare autosomal recessive blood coagulation disorder, where majority of patients present with bleeding, whereas a few may paradoxically develop thrombosis.
Arnab Ghorui +2 more
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Management and Treatment of Bleeding and Thrombotic Complications of Congenital Afibrinogenemia during Chemotherapy and Bone Marrow Transplant for B-ALL [PDF]
Background Inherited quantitative disorders of fibrinogen are rare and congenital afibrinogenemia (CA) is reported to affect approximately 1:1,000,000 persons worldwide. CA is a clinically heterogenous disease that may involve thrombotic events (TE),
Kimberley Youkhana +5 more
openalex +2 more sources
Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death
Congenital fibrinogen disorders are a group of most frequent rare coagulation disorder, characterized by deficiency and/or defects in the fibrinogen molecule. Quantitative disorders include hypofibrinogenemia and afibrinogenemia.
Yan Zhang MD +2 more
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Afibrinogenemia: A rare cause of refractory puberty menorrhagia
Excessive menstruation after attaining menarche during adolescent age group is known as puberty menorrhagia (PM). The most common presentation includes anemia due to excessive blood loss.
Vandana Kamatham +2 more
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The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice [PDF]
Congenital fibrinogen deficiencies (CFDs) comprise rare inherited disorders characterized by quantitative (afibrinogenemia, hypofibrinogenemia) or qualitative (dysfibrinogenemia, hypodysfibrinogenemia) abnormalities of fibrinogen.
Samin Mohsenian +2 more
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