Objective To establish a gene sequencing method for ABO blood group,to analyze the mu-tation sites at the DNA level in order to accurately identify ABO blood group.Methods Twenty blood sam-ples were selected,in which 18 samples were ABO normal blood group and 2 samples were the ABO subtype. Exons 6 and 7 of ABO blood group gene were amplified by sequence-specific primer PCR (PCR-SSP),and then the gene sequence was directly sequenced and analyzed by PCR,and the ABO blood group was identified by comparing with the ABO reference sequence.Results The gene sequencing results of 20 blood samples were consistent with the serological results.In 2 subtype samples,the genotype in 1 sample was BA.02/O.01 and its phenotype was B(A) subtype.C>G mutation occurred at position 700 of the 7th exon,which resulted in proline changing to alanine at position 234 during amino acid translation.The genotype of the other sample was AW.37/B.01 and the phenotype was AxB subtype.The position 940 of the 7th exon mutates from ade-nine to guanine,resulting in the mutation of lysine changing to glutamic acid at position 314 during protein translation.Conclusion A method of ABO blood group gene sequencing suitable for laboratory is estab-lished,which could accurately identify ABO blood group.

Objective:To improve the understanding of adult primary hemophagocytic syndrome (HPS) with aggressive natural killer cell leukemia (ANKL).Methods:The clinicopathological data of one adult patient with suspected primary HPS complicated with ANKL in Huiqiao Medical Center, Nanfang Hospital of Southern Medical University in October 2017 were retrospectively analyzed, and literatures were reviewed.Results:A 21-year-old male patient presented with persistent fever, hemocytopenia, splenomegaly, low fibrinogen, a significant increase in ferritin, hemophagocytes in bone marrow, decreased natural killer (NK) cell activity, and increased soluble CD25. Flow cytometry detection showed that the expression of NK cells was abnormal, and there were familial lysosomal trafficking regulator (LYST) and UNC13D gene defects. He was suspected of primary HPS complicated with ANKL. The patient was given 4 courses of EPOCH+PEG-Asp (etoposide, dexamethasone, vindesine, cyclophosphamide, doxorubicin hydrochloride liposome, pegaspargase) regimen chemotherapy, 20 mg of citalopidine twice a week maintenance therapy and matched unrelated hematopoietic stem cell transplantation. After 35 months of follow-up, he got sustained remission.Conclusions:Even if there are secondary causes of adult HPS, it is necessary to screen out related genes to avoid misdiagnosis. HPS patients with ANKL progress rapidly, and the early mortality is high. EPOCH+ PEG-Asp regimen induction therapy and allogeneic hematopoietic stem cell transplantation should be used as early as possible after diagnosis.