ABSTRACT
Objective@#To study the diagnostic strategy of β-thalassemia through retrospective analysis of 3 cases of β-thalassemia.@*Methods@#Three patients were admitted to the Department of Pediatrics, Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2014 to June 2015. The clinical manifestations, hemoglobin electrophoresis and gene detection of these patients and their parents were analyzed, diagnostic ideas and key points were discussed when beta thalassemia gene detection did not explain clinical manifestations or hemoglobin electrophoresis.@*Results@#Case 1, boy, 5 years old, was diagnosed as compound heterozygotes of β41-42 and IVS-Ⅱ-654 with hereditary persistence of fetal hemoglobin(HPFH) according to the clinical manifestations of mild anemia, normal size of liver and spleen, 92.8% fetal hemoglobin (HbF) and gene analysis. Case 2, girl, 3 years old, was confirmed the diagnosis of thalassemia intermedia with β41-42 heterozygote compound and αααanti3.7 heterozygote in accordance with the manifestations of severe anemia, hepatosplenomegaly, 8.6% HbF, 4.1% hemoglobin A2(HbA2) and gene analysis. Case 3, girl, 3 years old, with severe anemia, hepatosplenomegaly, 51.2% HbF and 3.7% HbA2, was diagnosed as thalassemia major with compound heterozygotes of PolyA (T→C) and β17 by DNA sequencing.@*Conclusion@#The diagnosis of β-thalassemia should be confirmed by clinical manifestations of hemolytic anemia, hemoglobin electrophoresis, gene diagnosis and family survey.
ABSTRACT
Objective To establish and verify the fluctuation of reference intervals for biochestry parameters in routine physical exami-nation. Methods The results of biochemistry parameters,i.e., total protein (TP), albumin (Alb), total bilirubin (T-Bil), alanine aminotransferase (ALT), glucose (Glu), urea (Urea), creatinine (Cr), uric acid (UA), triacylglycerol (TG) and total cholesterol ( TC) from 2 089 healthy subjects in routine physical examination during consecutive 2014, 2015 and 2016 were randomly collected, in which all the results were within the reference range. The ratio (λ1) of the results of 2015 to those of 2014, and ratio (λ2) of the re-sults of 2016 to those of 2015 were calculated. λ1was analyzed statistically to establish the fluctuation of reference interval (CIλ). CIλ was verified by λ2.The personalized reference interval (CIp) was established by multiplying each result of 2015 and the upper and low-er limits of CIλ. The CIpwas verified by the results of 2016. The ratios of CIpto the upper and lower limits of conventional reference in-terval were calculated. Results The values of CIλwere as follows: TP: 0.91 to 1.08, Alb: 0.91 to 1.08, T-Bil: 0.58 to 1.74, ALT:0.49 to 1.99, Glu: 0.84 to 1.20, Urea: 0.67 to 1.50, Cr: 0.82 to 1.22, UA: 0.77 to 1.32, TG: 0.51 to 1.98 and TC: 0.80 to 1.26. Compared with conventional reference interval, the ratio of the upper and lower limits of CIp was lessened. Conclusion The personal-ized reference interval (CIp) which may increase the sensitivity of conventional reference intervals was established and verified.
ABSTRACT
Objective To establish and verify the personalized reference interval of blood cells.Methods The results of blood cells from 2 089 health subjects in 2014,2015 and 2016 were collected.The ratio of the later results to the previous results was defined as the fluctuation (λ).The ratio (λ1) of the results of 2015 to the results of 2014 was calculated and λ1 was analyzed statistically to establish the fluctuation reference interval (CIλ).The ratio (λ2) of the results of 2016 to the results of 2015 was calculated.λ2 was used to verify λ2.The personalized reference interval (CIp) was established by multiplying each result of 2015 and CIλ.CIp was verified by results of 2016.The ratio of the upper and lower limits of CIp was calculated.The ratio of the upper and lower limits of the reference interval (WS/T 405) was calculated.Results The values of CIλ were as follows:WBC (0.66 to 1.53),L(0.67 to 1.51),M (0.50 to 2.00),N(0.56 to 1.78),E(0.4 to 2.51),PLT(0.76 to 1.32),RBC(0.92 to 1.12),Hb(0.92 to 1.11),Hct(0.91 to 1.12),MCV(0.95 to 1.07),MCH(0.95 to 1.05)and MCHC(0.94 to 1.06).The validation tests of CIλ and CIp showed that both CIλ and CIp were suitable for this laboratory.Compared with the reference interval of professional criteria,the ratio of the upper and lower limits of the CIp was smaller than that of traditional criteria.Conclusion CIp for this laboratory was established and verified.Compared with traditional criteria,CIp should be more personalized and highly sensitive.