Molecular analysis of an individual with CisAB phenotype / 中华医学遗传学杂志

Objective@#To explore the molecular basis for an individual with ABO subtype.@*Methods@#The ABO phenotype of the proband was determined by convention serological testing. Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing. Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique.@*Results@#Red blood cells of the proband showed a 4+ agglutination strength with anti-A or anti-H, no agglutination reaction with anti-A1, and a 3+ agglutination strength with anti-B. His serum had no reaction with standard A cells, O cells or self cells, but was weakly reactive with B cells at 4℃. The proband was assigned as an ABO subtype based on his serological features. Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del, 297AG, 526CG, 657CT, 703GA, 803GC and 930GA, and homozygosity of 796CC in the proband. Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01, and another contained a c. 796A>C variation compared with the ABO*B.01 allele, which led to replacement of methionine by leucine at position 266. Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one.@*Conclusion@#The c. 796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype. Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.

Molecular analysis of an individual with CisAB phenotype / 中华医学遗传学杂志

OBJECTIVE@#To explore the molecular basis for an individual with ABO subtype.@*METHODS@#The ABO phenotype of the proband was determined by convention serological testing. Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing. Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique.@*RESULTS@#Red blood cells of the proband showed a 4+ agglutination strength with anti-A or anti-H, no agglutination reaction with anti-A1, and a 3+ agglutination strength with anti-B. His serum had no reaction with standard A cells, O cells or self cells, but was weakly reactive with B cells at 4℃. The proband was assigned as an ABO subtype based on his serological features. Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del, 297AG, 526CG, 657CT, 703GA, 803GC and 930GA, and homozygosity of 796CC in the proband. Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01, and another contained a c.796A>C variation compared with the ABO*B.01 allele, which led to replacement of methionine by leucine at position 266. Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one.@*CONCLUSION@#The c.796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype. Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.

The prevalence and risk factors of anemia in a general population from Kailuan in north China / 中华内科杂志

Objective To analyze the prevalence and risk factors of anemia in a general population in Kailuan.Methods Working and retired employees m Kailuan Company who had participated in biennial physical examination from 2006-2014 were investigated by questionnaire and blood test.Hemoglobin levels＜ 120 g/L in male and＜ 110 g/L in female are defined as anemia.The trend of prevalence of anemia was analyzed by chi square test.Multivariable logistic regression was used to analyze the factors associated with anemia.Results (1) The biennial prevalence of anemia in Kailuan during 2006-2014 were 3.7％,3.1％,2.4％,1.3％,1.5％.The corresponding proportion were 3.3％,2.3％,1.9％,0.8％,1.0％ in males and 5.3％,5.9％,4.2％,3.1％ and 3.3％ in females,respectively.The differences between males and females were statistically significant (all P＜0.05).The prevalence of anemia declined over time (P for trend＜0.05).(2) The results of multivariable logistic regression showed that aging and elevated hs-CRP were positively associated with anemia,with OR=1.01 (95％CI 1.01-1.02)and 1.03 (95％CI 1.02-1.03),respectively.While male,BMI,physical exercise,smoking,hyperlipidemia were negatively associated with anemia with OR=0.60(95％CI 0.55-0.65),0.99 (95％CI 0.98-0.99),0.91 (95％CI 0.82-0.98),0.87 (95％CI 0.81-0.95)and 0.87(95％CI0.81-0.94),respectively.Conclusions The prevalence of anemia in a large general population in Kailuan has been analyzed.Prevalence of anemia is higher in males than females and declines over time.Several demographic and clinical characteristics are associated with anemia.