Contributions
Abstract: PB1811
Type: Publication Only
Background
Inhibitor is the most severe complication of hemophilia A treatment. Approximately, antibodies against Factor VIII develop in 25% of severe hemophilia A patients. There are both genetic and enviromental factors contributing the development of inhibitor. Genetic factors include Factor VIII gene defects (deletion of intron 22),and polymorphisms of immune response genes including genes encoding the human leukocyte antigens, tumor necrosis factor-a (TNF-a), interleukin-10 (IL-10) and cytotoxic T-lymphocyte antigen-4 (CTLA-4). It has been shown the association with some HLA alleles and inhibitor against Factor VIII.
Aims
The purpose of the pilot study is to evaluate the frequencies of HLA class I (A, B, C) and class II (DRB1, DQB1) alleles in patients with Turkish hemophilia A and compare to the results of unrelated healthy controls.
Methods
The distribution of HLA class I and II alleles in 30 hemophilia A patients with inhibitor and 30 unrelated healthy subjects as controls was determined using the PCR- Sequence Based Typing (PCR-SBT) method, and the association between the occurrence of factor VIII (FVIII) inhibitor and the presence of certain HLA class I and II alleles was investigated.
Results
The frequency of HLA - DQB1*02:02 was significantly higher in the hemophilia A patients with FVIII inhibitor as compared to controls (p=0.029). On the contrary, HLA-C*08:02, HLA-DRB1*03:01, and HLA-DRB1*04:02 alleles frequencies lower than controls (p=0.014, p=0.029, and p=0.014, respectively).
Conclusion
The study’s findings show that the DQB1*02:02 allele might have contributed to the occurrence of inhibitor in hemophilia A patients; however, additional research using larger samples is warranted.
Session topic: 34. Bleeding disorders (congenital and acquired)
Keyword(s): Inhibitor
Abstract: PB1811
Type: Publication Only
Background
Inhibitor is the most severe complication of hemophilia A treatment. Approximately, antibodies against Factor VIII develop in 25% of severe hemophilia A patients. There are both genetic and enviromental factors contributing the development of inhibitor. Genetic factors include Factor VIII gene defects (deletion of intron 22),and polymorphisms of immune response genes including genes encoding the human leukocyte antigens, tumor necrosis factor-a (TNF-a), interleukin-10 (IL-10) and cytotoxic T-lymphocyte antigen-4 (CTLA-4). It has been shown the association with some HLA alleles and inhibitor against Factor VIII.
Aims
The purpose of the pilot study is to evaluate the frequencies of HLA class I (A, B, C) and class II (DRB1, DQB1) alleles in patients with Turkish hemophilia A and compare to the results of unrelated healthy controls.
Methods
The distribution of HLA class I and II alleles in 30 hemophilia A patients with inhibitor and 30 unrelated healthy subjects as controls was determined using the PCR- Sequence Based Typing (PCR-SBT) method, and the association between the occurrence of factor VIII (FVIII) inhibitor and the presence of certain HLA class I and II alleles was investigated.
Results
The frequency of HLA - DQB1*02:02 was significantly higher in the hemophilia A patients with FVIII inhibitor as compared to controls (p=0.029). On the contrary, HLA-C*08:02, HLA-DRB1*03:01, and HLA-DRB1*04:02 alleles frequencies lower than controls (p=0.014, p=0.029, and p=0.014, respectively).
Conclusion
The study’s findings show that the DQB1*02:02 allele might have contributed to the occurrence of inhibitor in hemophilia A patients; however, additional research using larger samples is warranted.
Session topic: 34. Bleeding disorders (congenital and acquired)
Keyword(s): Inhibitor