FIBRINOGEN POISSY-I - A NEW CASE OF THE A-ALPHA ARG 16HIS FIBRINOGEN VARIANT

A fibrinogen variant was identified in a patient with disseminated int ravascular coagulation and in one member of her family. Coagulation st udies showed marked prolongation of both the thrombin and reptilase ti mes and discrepancy was noted between the levels of plasma fibrinogen, determined by a kinetic vs immunological determination or light scatt ering assay. Studies on purified fibrinogen revealed an impaired relea se of fibrinopeptides by thrombin. DNA sequencing revealed a heterozyg ous A to G point mutation in exon 2 of the A alpha chain, which substi tuted Arg for His at position 16. This mutation creates a Nla III clea vage site which was used to confirm the mutation.