[Biological and molecular aspects of haemophilia A]

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

hereditary bisalbuminemia [about one case]

Bisalbuminemia is an abnormality of the albumin which is characterised with a double band on serum protein electrophoresis. It could be hereditary with genetic mutation, or acquired during overdosage with beta-lactamines or during pancreatic fistula in a serous collection. We present in this letter, a case of bisalbuminemia, found in a 40 years-old patient presenting a with renal insufficiency

propos d'un cas d'agranulocytose au paracetamol

It is not known to the general public that Paracetamol can be toxic in the blood. The authors reported one case of agranulocytosis with hepato-toxicity which was noted in a young woman who had taken Paracetamol. The development is favourable. They noted the rarity of this problem, the mechanism by which it appears to be fundamentally immuno-allergic, the characteristic medullar aspect and the diagnostic pitfalls. The laboratory tests done to incriminate the drug are not adequate, but the agranulocytic culture method remains the safest means