A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T]). |
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Authors: | Eduardo Angles-Cano Florence Mathonnet Marie Dreyfus Ségolène Claeyssens Philippe de Mazancourt |
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Institution: | Inserm U698, Université Paris7-Denis Diderot, Paris, France. |
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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. |
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