Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria.

ABSTRACT:

Introduction

The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone to both haemorrhagic and thrombotic complications. Predictive markers of thrombosis in afibrinogenemia patients are not existent.

Aims and methods

Clinical and biological data from 46 afibrinogenemia patients are reported. Biological investigations included routine tests, genetics analysis and thrombin generation.

Results

FGA mutations (four novel and four previously described) and FGB mutations (seven mutations; five novels) were homozygous in all but one family as a result of 28 consanguineous marriages out of 30 discrete families. Incidence of afibrinogenemia in Algeria is at least 3 per million births. Umbilical bleeding was reported in 39/

SUBMITTER: Hadjali-Saichi S 

PROVIDER: S-EPMC9540330 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature