[Evaluation of adherence to the regulations for declaration of notification of transfusion reactions with fever and chills. A study of the Association Inter-Régionale du Sud-Est d'Hémovigilance (AIRSEH)]. / Evaluation de la conformité à la réglementation des déclarations d'incidents transfusionnels pour frissons-hyperthermie dans des établissements de santé du sud-est de la France (groupe AIRSEH).

Febrile non-hemolytic transfusion reactions (FNHTR) are the most frequently reported acute adverse effects of blood products, and should be notified within 48 h according to the hemovigilance regulation. In order to study the conformity of these notifications and to search for factors associated with non-conformity, we retrospectively studied all FNHTR notified by voluntary centers of the AIRSEH group from 1st September 1994 to 31st December 1999. Seven hundred and sixty-one FNHTR were registered by 10 centers, most of them were benign (grade 1); 67.8% were non-conform. The non-conformity was associated with the number of biological investigations performed (median number, respectively, 4.24 and 2.94--P = 0.038--in non-conform and conform notifications--P = 0.038) in univariate analysis. Using a logistic regression model, center and severity were the only two factors significantly associated with non-conformity. Different center practices, and in particular the interface between the hospital and the blood bank, may be responsible for the effect center. Moreover, the non-conformity concerns first of all benign FNHTR. A stronger separation between alert and epidemiological surveillance is proposed in order to improve the notifications' conformity.

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.

Congenital afibrinogenemia is an autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease in a non-consanguineous Swiss family. These were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Our subsequent study revealed that the majority of cases were attributable to truncating mutations in FGA, with the most common mutation affecting the donor splice site in FGA intron 4 (IVS4+1 G-->T). Here, we report 13 further unrelated patients with mutations in FGA, confirming the relative importance of this gene compared with FGG and FGB in the molecular aetiology of afibrinogenemia. Three other patients were homozygous for mutations in FGG. Eight novel mutations were identified: five in FGA and three in FGG. Sufficient mutation data is now available to permit an effective strategy for the genetic diagnosis of congenital afibrinogenemia.