Contributions
Abstract: PB1970
Type: Publication Only
Background
The association of HLA I and II class antigens with the development of autoimmune diseases (AD) had been reported for the Ankylosing spondylitis, rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes mellitus, acquired form of idiopathic thrombotic thrombocytopenic purpura, etc. HLA complex responsible for antigen presentation to T-lymphocytes play an important role in immune response, however the mechanisms underlying the association of HLA antigens with the development of AD are not fully understood. According to the literature, there is a negative correlation between the presence of HLA-DQ6 and the positive direct Coombs test in the patients with idiopathic immune hemolytic anemia (IHA) and hemolysis secondary to other neoplastic or viral diseases. Possible association of HLA antigens with the development of autoimmune hemolytic anemia (AIHA) has not been studied yet.
Aims
Identify the association of HLA-DR antigens with the development of AIHA.
Methods
The study included 24 patients with AIHA (diagnosed according to WHO 2016 classification) and 1507 healthy donors. Male to female ratio was 1:2.4. The median age was 37. Haplotypes of the DRB1 locus were assessed by SSP-HLA-typing for patients with AIHA (48 haplotypes) and healthy donors (3014 haplotypes).
Results
Comparison of control and study groups revealed DRB1 alleles with altered frequency of occurrence. Frequencies of DRB1*03 alleles (7 out of 48 examined haplotypes; 14% vs. 8% in the control group), DRB1*09 (3 of the 48 haplotypes studied; 6% vs. 0.86% in the control group), DRB1*16 (4 of 48 examined haplotypes; 8% vs. 3% in the control group) were increased in AIHA group. While DRB1*11 (2 of the 48 haplotypes studied; 4% vs. 13% in the control group) and DRB1*15 (2 of the 48 haplotypes studied; 4% vs. 13% in the control group) occur more often in the control cohort.
Conclusion
We have observed an increased incidence of the DRB1*03 allele among patients with AIHA. It should be noted that an increased incidence of this allele among patients with type 1 diabetes, celiac disease, diffuse toxic goiter, myasthenia gravis had been reported previously for European population. Incidence of DRB1*09 allele, which is frequent for Asian population and is very rare for European population, was also increase in Russian patients with AIHA. No association of DRB1*11 or DRB1*15 alleles with any AD had been reported so far. The altered frequencies of these alleles could be associated with the severity of the disease, resistance to therapy, or with other factors. Further studies with extended patients cohorts and long-term dynamic monitoring of patients are required for the definite interpretation of these observations.
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): AIHA (see autoimmune hemolytic anemia), HLA
Abstract: PB1970
Type: Publication Only
Background
The association of HLA I and II class antigens with the development of autoimmune diseases (AD) had been reported for the Ankylosing spondylitis, rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes mellitus, acquired form of idiopathic thrombotic thrombocytopenic purpura, etc. HLA complex responsible for antigen presentation to T-lymphocytes play an important role in immune response, however the mechanisms underlying the association of HLA antigens with the development of AD are not fully understood. According to the literature, there is a negative correlation between the presence of HLA-DQ6 and the positive direct Coombs test in the patients with idiopathic immune hemolytic anemia (IHA) and hemolysis secondary to other neoplastic or viral diseases. Possible association of HLA antigens with the development of autoimmune hemolytic anemia (AIHA) has not been studied yet.
Aims
Identify the association of HLA-DR antigens with the development of AIHA.
Methods
The study included 24 patients with AIHA (diagnosed according to WHO 2016 classification) and 1507 healthy donors. Male to female ratio was 1:2.4. The median age was 37. Haplotypes of the DRB1 locus were assessed by SSP-HLA-typing for patients with AIHA (48 haplotypes) and healthy donors (3014 haplotypes).
Results
Comparison of control and study groups revealed DRB1 alleles with altered frequency of occurrence. Frequencies of DRB1*03 alleles (7 out of 48 examined haplotypes; 14% vs. 8% in the control group), DRB1*09 (3 of the 48 haplotypes studied; 6% vs. 0.86% in the control group), DRB1*16 (4 of 48 examined haplotypes; 8% vs. 3% in the control group) were increased in AIHA group. While DRB1*11 (2 of the 48 haplotypes studied; 4% vs. 13% in the control group) and DRB1*15 (2 of the 48 haplotypes studied; 4% vs. 13% in the control group) occur more often in the control cohort.
Conclusion
We have observed an increased incidence of the DRB1*03 allele among patients with AIHA. It should be noted that an increased incidence of this allele among patients with type 1 diabetes, celiac disease, diffuse toxic goiter, myasthenia gravis had been reported previously for European population. Incidence of DRB1*09 allele, which is frequent for Asian population and is very rare for European population, was also increase in Russian patients with AIHA. No association of DRB1*11 or DRB1*15 alleles with any AD had been reported so far. The altered frequencies of these alleles could be associated with the severity of the disease, resistance to therapy, or with other factors. Further studies with extended patients cohorts and long-term dynamic monitoring of patients are required for the definite interpretation of these observations.
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): AIHA (see autoimmune hemolytic anemia), HLA