A novel mutation in exon 2 of FGB caused by c.221G>T substitution, predicting the replacement of the native Arginine at position 74 with a Leucine (p.Arg74Leu ) in a proband from a Kurdish family with dysfibrinogenaemia and familial venous and arterial thrombosis.

Dysfibrinogenaemias may present in either congenital or acquired form and are disorders of fibrinogen structure which may or may not be associated with abnormal function. More than 100 point mutations with single amino acid substitutions have been identified in over 400 families. These lead to defective DNA in the translated fibrinogen molecule.