Highly preferential association of NonF508del CF mutations with the M470 allele.

BACKGROUND: On the basis of previous findings on random individuals, we hypothesized a preferential association of CF causing mutations with the M allele of the M470V polymorphic site of the CFTR gene. METHODS: We have determined the M/V-CF mutation haplotype in a series of 201 North East Italian and 73 Czech CF patients who were not F508del homozygotes, as F508del was already known to be fully associated with the M allele. RESULTS: Out of 358 not F508del CF genes, 84 carried the V allele and 274 the less common M allele. In the N-E Italian population, MM subjects have a risk of carrying a CF causing mutation 6.9x greater than VV subjects when F508del is excluded and 15.4x when F508del is included. In the Czech population a similar, although less pronounced, association is observed. CONCLUSIONS: Besides the possible biological significance of this association, the possibility of exploiting it for a pilot screening program has been explored in a local North East Italian population for which CF patients were characterized for their CF mutation. General M470V genotyping followed by common CF mutation screening limited to couples in which each partner carries at least one M allele would need testing only 39% of the couples, which contribute 89% of the total risk, with a cost benefit.

[Transfusion incidents reports of grade zero: a national and descriptive analysis upon two years of practical survey]. / Les incidents transfusionnels de grade zéro: analyse descriptive nationale sur deux ans de pratique.

A grade zero transfusion incident is defined as an inappropriate transfusion of blood component due to one or several failures without immediate clinical or biological consequences for the recipient. Two years after the setting up of the mandatory notification of these incidents, Afssaps haemovigilance unit performed a first descriptive national analysis of the data collected in years 2003 and 2004 at the national level. This analysis was based on one part on computarised e-Fit national database and on the other part on investigation results documents and additional surveys set up by the network professionals. From a quantitative point of view, this study reveals differences in notification as well as in the type of analysis from one region to another. Quantitatively, 45% of grade zero transfusion incidents correspond to attribution errors. The site of origin of grade zero incidents is for almost 73% linked to health establishment, clinical unit or hospital blood bank, and for almost 23% linked to blood establishment. Complete analysis has notably shown that 9% of the incidents are due to errors in blood component prescription. This descriptive analysis, which identifies recurrent failure and critical points originating from non-appropriated transfusions, should constitute the starting point of a reflection aiming at optimising and standardising methods of analysis of grade zero transfusion incidents and at elaborating suggestions to better control critical points.