A case of afibrinogenemia associated with A-alpha chain gene compound heterozygosity (HUMFIBRA c.[4110delA]+[3200+1G>T])

被引：7

作者：

Angles-Cano, Eduardo

Mathonnet, Florence

Dreyfus, Marie

Claeyssens, Segolene

de Mazancourt, Philippe

机构：

[1] Hop Raymond Poincare, Lab Biochim & Biol Mol, UVSQ EA2493, Fac med Paris Ile De France Ouest, F-92380 Garches, France

[2] Univ Paris 07, INSERM, U698, Paris, France

[3] CHU Bichat, Paris, France

[4] Hop Bicetre, Serv Hematol Biol, Le Kremlin Bicetre, France

[5] Hop Purpan, Ctr Traitement Hemophiles, Toulouse, France

来源：

BLOOD COAGULATION & FIBRINOLYSIS | 2007年 / 18卷 / 01期

关键词：

afibrinogenemia; fibrinogen; mutation;

D O I：

10.1097/MBC.0b013e328010bd16

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 A alpha chain gene (c.[411OdelA]+[3200+1G > T]). The first mutation is a novel frameshift mutation inherited from her father. The second is a previously described A alpha chain gene splice junction mutation inherited from her mother. Neither of the parents fulfills the criteria for hypofibrinogenemia.

引用

页码：73 / 75

页数：3

共 14 条

[1] Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4+1 G→T [J].