OBJECTIVETo detect potential mutation in a family affected with congenital dyserythropoietic anemia type II (CDA II).

METHODSTargeted sequence capture and next-generation sequencing (NGS) were used to analyze the exons and exon-intron boundaries of the SEC23B gene in a clinically suspected CDA II patient. Genotypes of the relatives were validated by Sanger sequencing. Potential impact of amino acid substitution on the structure and function of SEC23B protein was predicted with MutationTaster and PolyPhen-2. The protein structure was predicted with SWISS-MODEL software.

RESULTSThe proband was found to harbor double heterozygous mutations of the SEC23B gene, c.1727T>C (p.F576S) and c.1831C>T (p.R611W), which resulted in amino acid substitutions p.F576S and p.R611W. Both mutations were confirmed by Sanger sequencing. The sister of the proband was found to have carried c.1727T>C (p.F576S), while her father and son have carried c.1831C>T (p.R611W) mutation. In addition, the proband was detected to have carried c.211C>T (p.R71X) of the HFE gene, which resulted in substitution of arginine by a stop codon. The impact of above mutations on the structure or function of protein was predicted to be harmful. Splenectomy and iron chelation therapy have achieved effective improvement of anemia and iron overload. Computer simulation suggested that the mutations have altered the 3D structure of the SEC23B protein.

CONCLUSIONThe novel compound mutations of c.1727T>C and c.1831C>T of the SEC23B gene probably underlie the CDA II in the family, and there is a strong correlation between the genotype and phenotype.

Adult ; Anemia, Dyserythropoietic, Congenital ; genetics ; Computer Simulation ; Family ; Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Phenotype ; Vesicular Transport Proteins ; genetics

【Objective】 To analyze the blood dispatching of hospitals in Shijiazhuang area, in order to provide reference for blood dispatching policy of hospitals and ensure clinical blood supply. 【Methods】 The hospital blood dispatching data from 2018 to 2021 were queried through the blood center information management system (SHINOW9.5) and TMIS system, and the blood dispatching volume, frequency, variety and blood type distribution of hospitals at all levels were analyzed by SPSS statistical software. 【Results】 From 2018 to 2021, there were 1 196 times of blood dispatching in hospitals with a total volume of 4 648.5 U, showing a downward and then upward trend two years before and after the outbreak of COVID-19. As the main blood dispatching product, erythrocyte dispatching was 3 988 U, accounting for 85.79% of the total dispatching volume, with a dispatching rate of 2.99‰. The dispatching volume of red blood cells in secondary hospitals accounted for 86.13%.The dispatching rate of erythrocyte in secondary and tertiary hospitals was 1.03% and 0.06%, respectively, with significant difference(P<0.05). The dispatching rates of type A and AB red blood cells were 3.08‰ and 4.97‰, which were significantly different from those of type B and O red blood cells. 【Conclusion】 Blood dispatching has become an effective way to avoid blood waste and ensure emergency blood use in secondary and tertiary hospitals. In the actual operation, health administration department should strengthen supervision and hospitals should improve the blood dispatching process to ensure blood safety.

【Objective】 To evaluate the efficacy and safety of early interventions by traditional Chinese medicine oral liquid combined with plasma exchange in the treatment of pregnant women with high titer of ABO/Rh antibodies. 【Methods】 156 pregnant women with serum antibodies presenting high titer (ABO ≥512, Rh ≥ 64) in our hospital from May 2018 to April 2021 were randomly divided into traditional Chinese medicine group(group Ⅰ, n=68), traditional Chinese medicine combined with plasma exchange group(group Ⅱ, n=57) and control group (n=31). The control group were given VC, VEand oxygen uptake. Group Ⅰ were further given oral administration of traditional Chinese medicine liquid on the basis of treatment of the controls. GroupⅡwas further treated with plasma exchange on the basis of group I treatment(for 20 days every month). The biochemistry, serum antibody titer and foetus intrauterine growth were monitored. The the efficacy of treatment, as well as pregnancy and neonatal conditions in the three groups were observed. 【Results】 The decrease time of antibody titer and IgG subtype titer in groupⅠ and Ⅱ, relative to the controls, were significantly better(P<0.05). The effective rate of group Ⅰ(72.59%, 49/68) and group Ⅱ(92.98%, 53 /57) were significantly higher than the controls(18.52%, 5/27, with 4 cases excluded). No HDN occurred in group II, indicating superior treatment outcome to group I and the controls. 【Conclusion】 The oral administration of traditional Chinese medicine liquid combined with plasma exchange, with good therapeutic efficacy and maternal-fetal safety, was effective for the early interventions of ABO/Rh incompatible HDN and worthy of clinical application.

【Objective】 To develop a quick and accurate crossmatching test technology without the power equipment and additional reagents before blood transfusion, so as to improve the timeliness and safety of blood transfusion treatment in sudden situations as war or natural disasters. 【Methods】 The irregular antibodies quickly promote coagulants (QPC) were used as the reaction medium reagent. The 200 μL QPC were wrapped in the bursts bead and preset within different recess of the detection tubes. The bursts beads were squeezed with the reagent left in the well, then the blood samples were dropped in the main(recipient plasma: 200 μL, donor 3%—5% RBC: 100 μL) and secondary(donor plasma: 200 μL, recipient 3%—5% RBC: 100 μL)reaction grooves. The result interpretated by hand wrestling or 1 500 g centrifugation of 15 seconds. Meanwhile, the comparing experiments with the prior methods were implemented to evaluate the method’s reliability. 【Results】 The results of the bursting reagent, being stored at 37℃ for one week, were consistent with those of the freshly prepared cross-matching reagent, indicating that the bursting reagent was practical in the field and had good stability at normal temperature. No statistical difference between the sensitivity and the results of the microcolumn gel method was noticed by paired data t test (P>0.05). The parallel cross matching tests of 50 clinical samples were performed by microcolumn gel method and coagulant-bursting technique; the Kappa value was 0.973 2, and irregular antibodies were detected in 2 cases, with concordance rate at 100%, showing good consistency. 【Conclusion】 The improved method is simple and fast, and also safe and reliable for compatibility testing before blood transfusion, which is especially suitable for the field rescue of the wounded in wartime and sudden natural disasters, and is worthy of popularization.