Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk)

Two siblings with hypofibrinogenemia have lifelong trauma-related bleeding. Recently, the brother experienced recurrent thrombosis after cryoprecipitate infusions following surgery. The sister had 6 miscarriages. Plasma clots in each were resistant to compression and fibrinolysis and were soluble in...

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Veröffentlicht in:	Blood 2004-04, Vol.103 (7), p.2571
Hauptverfasser:	Lefebvre, Phil, Velasco, Pauline T, Dear, Amy, Lounes, Karim C, Lord, Susan T, Brennan, Stephen O, Green, David, Lorand, Laszlo
Format:	Artikel
Sprache:	eng
Schlagworte:	Blood Coagulation Disorders - genetics Dimerization Europe - ethnology Family Female Fibrin - genetics Fibrinogen - genetics Fibrinogen - isolation & purification Fibrinogens, Abnormal - genetics Genetic Carrier Screening Hemostasis - genetics Humans Male Mutation Pedigree Point Mutation Sequence Deletion United States
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