[Significance of mutation analysis in patients with haemophilia A]. / Bedeutung der Mutationsdiagnostik bei Patienten mit Hämophilie A.
Hamostaseologie
; 23(1): 6-12, 2003 Feb.
Article
em De
| MEDLINE
| ID: mdl-12567193
ABSTRACT
Haemophilia A represents the most frequent hereditary bleeding disorder in humans. The disease is caused by mutations within the factor VIII gene leading to decreased or absent factor VIII activities with a bleeding tendency depending on the degree of factor VIII deficiency. Nowadays, the causative mutations can be routinely detected and have substantially improved diagnostic and understanding of the pathophysiology of haemophilia A. Identification of the gene defects in haemophilic families have enabled fast and save carrier diagnosis. The correlation of the genetic defects with the clinical course revealed that the type of mutation represents the most important genetic predisposing factor for inhibitor formation, the most severe complication of treatment with factor VIII concentrates. Mitigated clinical courses of haemophilia A were shown to be due to special types of mutations or the presence of concomitant thrombophilic mutations. Molecular models of the factor VIII protein allowed to investigate the effects of specific mutations thus giving new insights in the structure/function relationship of the factor VIII molecule. These findings might promote the development of novel recombinant factor VIII concentrates with higher efficacy, longer half life and reduced immunogenicity.
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Base de dados:
MEDLINE
Assunto principal:
Hemofilia A
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
De
Revista:
Hamostaseologie
Ano de publicação:
2003
Tipo de documento:
Article