The formation of a somatic mutation in the HLA-B gene throughout the development of the disease from severe aplastic anaemia to acute myeloid leukaemia.
The expression frequencies of HLA-B*48:01 and DRB1*09:01 were significantly higher and the frequencies of HLA-B*51:01, DRB1*03:01 and DRB1*11:01 were significantly lower in the AA group compared with those in the control group.
The frequencies of the HLA-B*4002 and HLA-A*0206 alleles in patients with aplastic anemia (AA) (n=32; 21.9%) and paroxysmal nocturanl hemoglobinuria (PNH) (n=24; 22.9%), respectively, were significantly different from those in controls (n=371; 8.6%, p<0.002 and 7.7%, p<0.001, respectively), suggesting that each specific allele in AA or PNH may be related to the immunologic pathophysiology of these disorders.