Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.
Journal
Hamostaseologie
ISSN: 2567-5761
Titre abrégé: Hamostaseologie
Pays: Germany
ID NLM: 8204531
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
entrez:
22
12
2022
pubmed:
23
12
2022
medline:
27
12
2022
Statut:
ppublish
Résumé
Hemophilia A and hemophilia B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of coagulation FVIII or FIX activity levels, which is determined by the type of the pathogenic variants in the genes encoding the two factors ( Hämophilie A und B sind seltene angeborene, rezessive X-chromosomale Erkrankungen, die durch einen Mangel an Gerinnungsfaktor VIII (FVIII) bzw. IX (FIX) verursacht werden. Der Schweregrad der Erkrankung hängt von der Verringerung der Gerinnungsaktivitäten von FVIII bzw. FIX ab, die durch die Art der pathogenen Varianten in den Genen für die beiden Faktoren (
Autres résumés
Type: Publisher
(ger)
Hämophilie A und B sind seltene angeborene, rezessive X-chromosomale Erkrankungen, die durch einen Mangel an Gerinnungsfaktor VIII (FVIII) bzw. IX (FIX) verursacht werden. Der Schweregrad der Erkrankung hängt von der Verringerung der Gerinnungsaktivitäten von FVIII bzw. FIX ab, die durch die Art der pathogenen Varianten in den Genen für die beiden Faktoren (
Identifiants
pubmed: 36549291
doi: 10.1055/a-1945-9429
pmc: PMC9779947
doi:
Substances chimiques
Factor VIII
9001-27-8
Factor IX
9001-28-9
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
390-399Informations de copyright
The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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