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

Blood - 1 Apr 2004

Lefebvre Phil, Velasco Pauline T, Dear Amy, Lounes Karim C, Lord Susan T, Brennan Stephen O, Green David, Lorand Laszlo

Abstract excerpt

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 5 M urea. Examination by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) revealed only the...

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PMID: 14615374
DOI: 10.1182/blood-2003-07-2316

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