Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort
نویسندگان
چکیده
1University of Health Sciences Faculty of Medicine, Department of Hematology, Lahore, Pakistan 2University of Health Sciences Faculty of Medicine, Department of Biochemistry, Lahore, Pakistan 3Quaid-i-Azam University Faculty of Biological Sciences, Department of Biochemistry, Islamabad, Pakistan 4University of Health Sciences of Medicine, Department of Human Genetics and Molecular Biology, Lahore, Pakistan
منابع مشابه
Genotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
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Background: Factor VIII administration to hemophilia A patients results in an immune response (inhibitor formation) which significantly complicates the therapy. The present study was performed to determine the prevalence of inhibitor development in hemophilia A patients receiving recombinant factor VIII therapy. Materials and Methods: This was an observational descriptive study. Clotting fac...
متن کاملDirect detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A.
Two recent reports suggest that approximately 50% of the cases of severe hemophilia A (factor VIII:C < 0.01 U/mL) may be caused by a gross rearrangement of the factor VIII gene. The mutation involves genomic sequence from exon 1 to within intron 22 of the gene in an inversion event. This rearrangement can be detected on a Southern blot using a probe that is complementary to sequence from within...
متن کاملAnalysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A.
BACKGROUND AND OBJECTIVES Hemophilia A (HA), the deficiency of coagulation factor VIII (FVIII), is the most common, sex-linked inherited bleeding disorder. The disease is caused by FVIII gene intron 22 inversion in approximately 50% of the patients, and by intron 1 inversion in 5% of the patients with severe HA. Both inversions occur as a result of intrachromosomal recombination between homolog...
متن کاملPrevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A.
INTRODUCTION Patients with severe hemophilia A often develop inhibitors (antibodies) against transfused factor VIII. MATERIAL/METHODS One hundred thirteen Polish patients with severe hemophilia A, who had been treated on demand with cryoprecipitate until 1992 and exclusively with factor VIII concentrates after 1995, were examined for intron 22 inversion by Southern blotting and the presence a...
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