A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T])
- 1 January 2007
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Blood Coagulation & Fibrinolysis
- Vol. 18 (1), 73-75
- https://doi.org/10.1097/mbc.0b013e328010bd16
Abstract
The clinical features and molecular biology data of a case of afibrinogenemia are reported. The propositus is a 14-year-old girl who suffered several bleeding manifestations that were successfully treated with fibrinogen infusion. The afibrinogenemia results from compound heterozygosity for two mutations on the Aalpha chain gene (c.[4110delA]+[3200+1G>T]). The first mutation is a novel frameshift mutation inherited from her father. The second is a previously described Aalpha chain gene splice junction mutation inherited from her mother. Neither of the parents fulfills the criteria for hypofibrinogenemia.Keywords
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