RELATION BETWEEN INHIBITOR PRODUCTION AND BCLI/INTRON 18 AND VNTR ST14 POLYMORPHISMS IN A IRANIAN POPULATION WITH HEMOPHILIA A
(Abstract release date: 05/21/15)
EHA Library. Mirbehbahani N. 06/12/15; 102581; PB1690
Disclosure(s): Faculty of MedicineGolestan University of Medical Science
Prof. Nargesbeigom Mirbehbahani
Contributions
Contributions
Abstract
Abstract: PB1690
Type: Publication Only
Background
According to several reports, 20-30% of severe hemophilia A and 1-3% of severe hemophilia B patients develop inhibitors. There is a collection of mutations related to production of inhibitor in hemophilia A.
Aims
In factor VIII gene that is associated hemophilia A, the most useful polymorphisms are bi-allelic that are formed by a single nucleotide substitution. Identifying these mutations can help to diagnosis the susceptible people for this disorder. Here, two of these mutations were studied in Iranian Hemophilia with inhibitor production.
Methods
We have 150 patients with hemophilia and rare bleeding disorders in our center. It was studied all of patients with hemophilia A from our center. Inhibitor was tested for all of them and cases with inhibitor >0.5 BU determined. 20 patients from 80 had inhibitor. BclI/intron 18 and VNTR st14 polymorphisms of factor VIII gene were analyzed in 20 patients of hemophilia A with inhibitor. DNA was extracted from whole blood. RFLP and usual PCR techniques were done for BclI/intron 18 and VNTR st14, respectively. Results: In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Results
In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Summary
The observed BclI/intron 18 was quite high in our cases in comparison other hemophilias without inhibitor. But, the heterozygosity rate for VNTR st14 was different in our study in comparison with other hemophilias without inhibitor. Therefore BclI/intron 18 can increase risk of production of inhibitor in Iranian population.
Keyword(s): Hemophilia A, Inhibitor
Type: Publication Only
Background
According to several reports, 20-30% of severe hemophilia A and 1-3% of severe hemophilia B patients develop inhibitors. There is a collection of mutations related to production of inhibitor in hemophilia A.
Aims
In factor VIII gene that is associated hemophilia A, the most useful polymorphisms are bi-allelic that are formed by a single nucleotide substitution. Identifying these mutations can help to diagnosis the susceptible people for this disorder. Here, two of these mutations were studied in Iranian Hemophilia with inhibitor production.
Methods
We have 150 patients with hemophilia and rare bleeding disorders in our center. It was studied all of patients with hemophilia A from our center. Inhibitor was tested for all of them and cases with inhibitor >0.5 BU determined. 20 patients from 80 had inhibitor. BclI/intron 18 and VNTR st14 polymorphisms of factor VIII gene were analyzed in 20 patients of hemophilia A with inhibitor. DNA was extracted from whole blood. RFLP and usual PCR techniques were done for BclI/intron 18 and VNTR st14, respectively. Results: In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Results
In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Summary
The observed BclI/intron 18 was quite high in our cases in comparison other hemophilias without inhibitor. But, the heterozygosity rate for VNTR st14 was different in our study in comparison with other hemophilias without inhibitor. Therefore BclI/intron 18 can increase risk of production of inhibitor in Iranian population.
Keyword(s): Hemophilia A, Inhibitor
Abstract: PB1690
Type: Publication Only
Background
According to several reports, 20-30% of severe hemophilia A and 1-3% of severe hemophilia B patients develop inhibitors. There is a collection of mutations related to production of inhibitor in hemophilia A.
Aims
In factor VIII gene that is associated hemophilia A, the most useful polymorphisms are bi-allelic that are formed by a single nucleotide substitution. Identifying these mutations can help to diagnosis the susceptible people for this disorder. Here, two of these mutations were studied in Iranian Hemophilia with inhibitor production.
Methods
We have 150 patients with hemophilia and rare bleeding disorders in our center. It was studied all of patients with hemophilia A from our center. Inhibitor was tested for all of them and cases with inhibitor >0.5 BU determined. 20 patients from 80 had inhibitor. BclI/intron 18 and VNTR st14 polymorphisms of factor VIII gene were analyzed in 20 patients of hemophilia A with inhibitor. DNA was extracted from whole blood. RFLP and usual PCR techniques were done for BclI/intron 18 and VNTR st14, respectively. Results: In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Results
In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Summary
The observed BclI/intron 18 was quite high in our cases in comparison other hemophilias without inhibitor. But, the heterozygosity rate for VNTR st14 was different in our study in comparison with other hemophilias without inhibitor. Therefore BclI/intron 18 can increase risk of production of inhibitor in Iranian population.
Keyword(s): Hemophilia A, Inhibitor
Type: Publication Only
Background
According to several reports, 20-30% of severe hemophilia A and 1-3% of severe hemophilia B patients develop inhibitors. There is a collection of mutations related to production of inhibitor in hemophilia A.
Aims
In factor VIII gene that is associated hemophilia A, the most useful polymorphisms are bi-allelic that are formed by a single nucleotide substitution. Identifying these mutations can help to diagnosis the susceptible people for this disorder. Here, two of these mutations were studied in Iranian Hemophilia with inhibitor production.
Methods
We have 150 patients with hemophilia and rare bleeding disorders in our center. It was studied all of patients with hemophilia A from our center. Inhibitor was tested for all of them and cases with inhibitor >0.5 BU determined. 20 patients from 80 had inhibitor. BclI/intron 18 and VNTR st14 polymorphisms of factor VIII gene were analyzed in 20 patients of hemophilia A with inhibitor. DNA was extracted from whole blood. RFLP and usual PCR techniques were done for BclI/intron 18 and VNTR st14, respectively. Results: In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Results
In this population, 55% had a restriction site on BclI. All of patients were homozygote for VNTR st14 and just one allele was observed.
Summary
The observed BclI/intron 18 was quite high in our cases in comparison other hemophilias without inhibitor. But, the heterozygosity rate for VNTR st14 was different in our study in comparison with other hemophilias without inhibitor. Therefore BclI/intron 18 can increase risk of production of inhibitor in Iranian population.
Keyword(s): Hemophilia A, Inhibitor
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