8. Ulusal Pediatrik Hematoloji Sempozyumu, İstanbul, Türkiye, 25 - 28 Mayıs 2022
Background: Human leucocyte antigens (HLA) class I and II alleles are shown to be
associated with certain diseases. A restricted numbers of alleles were found to be related to
alloimmunisation in thalassemia population. The role of HLA in thalassemia is trend topic. In
this study, the aim was to evaluate the differences in HLA frequencies of beta thalassemia
patients comparing with healthy controls.
Material and methods: The data were collected of 100 patients who were diagnosed with
beta thalassemia and 100 healthy controls were included in the study. The low resolution
HLA-A, -B, -DRB1 tissue typing were performed at Istanbul University, Istanbul Faculty of
Medicine, Department of Medical Biology HLA typing laboratory. All data were analyzed
retrospectively and their HLA allele frequencies were analyzed by SPSS (v23) program.
Results: The twenty-one (21%) patients received bone marrow transplantation. The overall
HLA class I and DRB1 alleles of patients were similar with healthy group. However, patients
with transplantation had significantly higher frequency of HLA-A*66, HLA-B*41, HLA-
B*55, HLA-DRB1*3 allele and had lower frequency of HLA-B*14, HLA-DRB1*11 and
HLA-DRB1*16 allele compared to patients without transplantation (p<0.05). The HLA-A*3,
HLA-B*41 and HLA-B*55 allele were found high in transplanted patients compared to
healthy group (p=0.04). Females with beta thalassemia had increased frequency of HLA-
B*58 and HLA-DRB1*4 allele (p=0.04).
Conclusion: Our results showed that HLA-B*41 and -B*55 allele were associated with bone
marrow transplantation in beta thalassemia patients in Turkish population. The HLA-B*14
and HLA-DRB1*16 allele were rarely found in bone marrow transplantation. It might be
speculated that the difference in HLA-B certain alleles in thalassemia patients can yield a
challenge in finding the matched donor in our population.
Keywords: Beta thalassemia, HLA Class I, HLA Class II, Hematopoietic Stem Cell
Transplantation