Factor VIII Gene Inversions in Haemophilia A Patients of Slovakia

Haemophilia A is caused by a broad range of mutations in the factor VIII (FVIII) gene. The most frequent of them is a large inversion, which appears to be the underlying defect in approximately 45% of all severely affected patients (FVIII < or = 1%). The results here are of 84 unrelated Slovak ha...

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Bibliographic Details
Published in:Human heredity 1998-01, Vol.48 (1), p.34-37
Main Authors: POLAKOVA, H, KADASI, L, FILOVA, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Inversion
Factor VIII - genetics
Genetic Testing
Hematologic and hematopoietic diseases
Hemophilia A - genetics
Humans
Medical sciences
Original Paper
Platelet diseases and coagulopathies
Slovakia
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Summary:Haemophilia A is caused by a broad range of mutations in the factor VIII (FVIII) gene. The most frequent of them is a large inversion, which appears to be the underlying defect in approximately 45% of all severely affected patients (FVIII < or = 1%). The results here are of 84 unrelated Slovak haemophilia A cases. The factor VIII inversion was identified in 22 of 44 (50%) patients with severe haemophilia A and in 1 of 13 patients with moderately severe disease. The inversions of distal type were more frequent (82.6%) than proximal ones (17.4%).
ISSN:0001-5652
1423-0062
DOI:10.1159/000022779