ABSTRACT
This study was aimed to investigate the genetic characteristics, identification method and transfusion strategy of rare blood type B(A). The rare blood group B(A) was typed by serological technique, PCR-SSP genotyping and sequencing of exon 6, 7 of ABO blood group. The genetic characteristics and molecular mechanism of B(A) blood group were also analyzed. Blood group compatibility test was conducted between blood donors of B(A) and recipients by clinical transfusion. The results showed that both forward and reverse grouping did not match the 3 cases of serological result in their family survey, while all of the 3 cases were grouped as AB blood group by forward grouping, B blood group by reverse grouping with serological result and B(A)04/001 group were genotyped by ABO genotyping. The patient of B blood group was transfused by 1 bag of washed red blood cells of donor of B(A) under closely monitoring, the patient's condition changed, and a mild adverse transfusion reaction was appeared. Washed red blood cell of O blood group was transfused into B(A) patient without blood transfusion reaction. It is concluded that the forward ABO serological grouping and reverse ABO serological grouping are not compatible, that may be verified by family survey and molecular biological methods. If in some cases transfusion therapy was applied, and group B(A) can not be transfused to the patient with group B or AB. Thus, transfusion compatibility or autologous transfusion can be adopted to transfuse to the patient from group B(A).
Subject(s)
Adult , Humans , Male , ABO Blood-Group System , Genetics , Allergy and Immunology , Base Sequence , Blood Grouping and Crossmatching , Genotype , Transfusion ReactionABSTRACT
<p><b>OBJECTIVE</b>Based on the distribution of genetic polymorphisms regarding phase I metabolic enzyme cytochrome P450 1A1 (CYP1A1) and phase II metabolic enzymes glutathione S-transferase GSTM1 and GSTT1 genotypes in acute leukemia patients and health controls among general population of Hunan in China, this study was to explore the relationship between these gene polymorphisms and the susceptibility to acute leukemia.</p><p><b>METHODS</b>Using case-control methodology, we studied 204 healthy controls and 232 patients with acute leukemia, of which 112 patients were suffering acute lymphoblastic leukemia (ALL) and 120 with acute non-lymphoblastic leukemia (ANLL). The frequencies of the genotypes were detected by PCR and PCR-RFLP techniques.</p><p><b>RESULTS</b>The variation frequencies of CYP1A1 gene (Msp I polymorphisms, site 3801T-C variation) in ALL and ANLL groups were 74.1% and 70.8% respectively which were higher than 63.3% appeared in the healthy controls. However, the differences between patients (ALL or ANLL) and healthy controls were not statistically significant (P > 0.05 for both). The null genotype of GSTM1 (GSTM1 -/-) in ALL group was 60.7%, which was not significantly different from the controls (55.4%). However, GSTM1 -/- genotype in ANLL group was 68.3%, significantly different from the controls (P < 0.05). The null genotypes among GSTT1 (GSTT1 -/-) in ALL, ANLL and control group were 50.9%, 55.0% and 49.0% but their differences were not statistically significant (P > 0.05). The incidences of GSTM1 -/- and GSTT1 -/- combined genotype in ALL, ANLL and control group were 33.0%, 40.0% and 27.5%, of which the difference between ANLL group and control group was statistically significant (P < 0.05) and CYP1A1 gene heterozygous mutation type or homozygous mutation type combined with GSTM1 -/- and GSTT1 -/- increased the risk of ANLL (OR value 1.890, 95% CI: 1.084-3.295).</p><p><b>CONCLUSION</b>These results indicated that both the variation of CYP1A1 gene or GSTT1 -/- genotype alone might not be associated with the susceptibility of acute leukemia while GSTM1 -/- genotype alone or combined with GSTT1 -/- or the 3801 T-C variation of CYP1A1 gene were correlated with ANLL. These findings suggest that GSTM1 - / - genotype alone or in combination with other defective genotypes might serve as risk factors to the etiology of ANLL.</p>