Polymorphism in factor VII gene modifies phenotype of severe haemophilia

Polymorphism in factor VII gene modifies phenotype of severe haemophilia

The basis for 10–15% of patients with severe haemophilia having clinically mild disease is not fully understood. We hypothesized that polymorphisms in various coagulant factors may affect frequency of bleeding while functionally significant polymorphisms in inflammatory and immunoregulatory genes ma...

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Veröffentlicht in:Haemophilia : the official journal of the World Federation of Hemophilia 2009-11, Vol.15 (6), p.1228-1236
Hauptverfasser: JAYANDHARAN, G. R., NAIR, S. C., POONNOOSE, P. M., THOMAS, R., JOHN, J., KESHAV, S. K., CHERIAN, R. S., DEVADARISHINI, M., LAKSHMI, K. M., SHAJI, R. V., VISWABANDYA, A., GEORGE, B., MATHEWS, V., CHANDY, M., SRIVASTAVA, A.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Biomarkers
Blood Coagulation Factors - genetics
Child
Child, Preschool
Factor VII - genetics
Genetic Association Studies
Genotype
haemophilia
Hemophilia A - genetics
Hemophilia B - genetics
Hemorrhage - etiology
Hemorrhage - genetics
Humans
Male
Middle Aged
Phenotype
polymorphism
Polymorphism, Genetic - genetics
Severity of Illness Index
variation
Young Adult
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Zusammenfassung:The basis for 10–15% of patients with severe haemophilia having clinically mild disease is not fully understood. We hypothesized that polymorphisms in various coagulant factors may affect frequency of bleeding while functionally significant polymorphisms in inflammatory and immunoregulatory genes may also contribute to variations in the extent of joint damage. These variables were studied in patients with severe haemophilia, who were categorized as ‘mild’ (
ISSN:1351-8216
1365-2516
DOI:10.1111/j.1365-2516.2009.02080.x