[Biological and molecular aspects of haemophilia A]

ABSTRACT

Haemophilia A is a recessive constitutional, hereditary or sporadic, transmission hemorrhagic illness bound to the X chromosome and definite by the deficiency of coagualation factor VIII. We propose in this work the molecular and phenotypic aspects of the haemophilia A. The data on the gene and the FVIII protein are reported. The particular case of the inversion of the intron 22 and more lately the inversion of the intron 1 are at the origin of nearly the half of the severel cases of hemophilia A. The other anomalies are represented respectively by the singles substitutions, deletions and insertions. The present diagnosis strategy of the severe form of the illness simplified itself considerably since the description of the common inversion