Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns.

Family studies in an extremely large mild haemophilia A pedigree which includes 10% of Greek haemophiliacs.

We illustrate the usefulness of direct mutation detection for genetic counseling by showing its application to an extremely large mild haemophilia A pedigree (91 haemophiliacs) originating from the village of Aiani in Macedonia, northern Greece. The causative mutation has already been shown to be an A to T transversion in codon 280 of the FVIII gene which replaces Asn 280 (AAC) by Ile (ATC) and which creates a new Bam HI restriction site in exon 7. The latter permitted direct, rapid and reliable detection of the mutation in relevant family members.

Epidemiology of haemophilia in Greece: an overview.

Demographic data of the Greek haemophilia A and B population for the period 1972-1993 were analyzed. Prevalence at birth including known not-registered patients was calculated at 23.1 per 100,000 male births.