Congenital afibrinogenemia in 10 offspring of uncle‐niece marriages

Fried, K.; Kaufman, Suzana

doi:10.1111/j.1399-0004.1980.tb00137.x

Cited by 44 publications

(15 citation statements)

References 4 publications

(3 reference statements)

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“…Intracranial bleeding was reported in 5% of registry cases. Similar symptoms and frequent umbilical bleeding were reported in 65 cases in Iranian and Palestinian case series (Fried & Kaufman, ; Lak et al , ) and in an international survey of 100 cases (Peyvandi et al , ). Arterial and venous thrombosis, poor wound healing and splenic rupture are rare features of afibrinogenaemia and hypofibrinogenaemia (de Moerloose et al , ).…”

Section: Fibrinogen Deficiencysupporting

confidence: 79%

Guideline for the diagnosis and management of the rare coagulation disorders

et al. 2014

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Section: Fibrinogen Deficiencysupporting

confidence: 79%

Guideline for the diagnosis and management of the rare coagulation disorders

et al. 2014

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“…It is relatively more frequent in communities with consanguineous marriages [4], which was not the case in this patient. Afibrinogenemia is associated with a bleeding tendency of variable severity including life-threatening spontaneous events, but can also have long periods without bleeding episodes.…”

Section: Discussioncontrasting

confidence: 53%

Congenital afibrinogenemia in a new born

Kaur

Kumar

Bose

et al. 2014

Blood Coagulation &Amp; Fibrinolysis

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Bleeding in the neonates may be a result of thrombocytopenia, sepsis or vitamin K deficiency. Congenital bleeding disorders are a rare cause of bleeding. The umbilical cord bleed is an important clue to underlying bleeding disorders especially factor XIII deficiency and afibrinogenemia. In some laboratories, the routine workup for the bleeding neonate may not always include fibrinogen assays, which may then delay this diagnosis. We report a case of congenital afibrinogenemia in a neonate who presented with umbilical stump bleeding for its rarity and to re-emphasize the need for including fibrinogen assays while assessing a bleeding neonate.

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“…Bleeding because of afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding [12], but a later age‐of‐onset is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genito‐urinary tract or the central nervous system [13–17] with intracranial hemorrhage being the major cause of death.…”

Section: Inherited Disorders Of Fibrinogenmentioning

confidence: 99%

Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins

Vu¹,

Neerman-Arbez

2007

Journal of Thrombosis and Haemostasis

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Summary. Fibrinogen, the soluble precursor of fibrin, which is the main protein constituent of the blood clot, is synthesized in hepatocytes in the form of a hexamer composed of two sets of three polypeptides (Aa, Bb, and c). Each polypeptide is encoded by a distinct gene, FGA, FGB and FGG, all three clustered in a region of 50 kb on 4q32. Congenital afibrinogenemia is characterized by the complete absence of fibrinogen. The first causative mutation for this disease was identified in Geneva in a non-consanguineous Swiss family in 1999: the four patients were homozygous for a large deletion in the fibrinogen cluster, which eliminated almost the entire FGA genomic sequence. Mutations in the fibrinogen genes may lead to deficiency of fibrinogen by several mechanisms: acting at the DNA level, at the RNA level by affecting mRNA splicing or stability, or at the protein level by affecting protein synthesis, assembly or secretion. Recent reviews have provided helpful updates for the rapidly growing number of causative mutations identified in patients with fibrinogen deficiencies, either afibrinogenemia or hypofibrinogenemia. The aim of this review is to highlight specifically the subset of mutations that allow fibrinogen chain synthesis and hexamer assembly but impair secretion. Indeed, functional studies of these mutations have shed light on the specific sequences and structures in the fibrinogen molecule involved in the quality control of fibrinogen secretion.

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Congenital afibrinogenemia in 10 offspring of uncle‐niece marriages

Cited by 44 publications

References 4 publications

Guideline for the diagnosis and management of the rare coagulation disorders

Guideline for the diagnosis and management of the rare coagulation disorders

Congenital afibrinogenemia in a new born

Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins

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