1.Genotypes of thalassemia in children: an analysis of 30 417 cases.
Chinese Journal of Contemporary Pediatrics 2021;23(8):841-847
OBJECTIVES:
To investigate the distribution of genotypes of thalassemia in children in Guangxi, China.
METHODS:
A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia.
RESULTS:
Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --
CONCLUSIONS
There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --
Child
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China/epidemiology*
;
Genotype
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Heterozygote
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Humans
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Mutation
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alpha-Thalassemia/genetics*
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beta-Thalassemia/genetics*
2.The correlation between nosocomial infections and the serum levels of interleukin-10,interleukin-13,interlenkin-15 in patients with chronic hepatic failure
Zhi-Jun SU ; Jian-Liang ZHUANG ; Ru-Yi GUO ; Xiao-Dong QIU ; De-Song MING ; Qi LIN ;
Chinese Journal of Infectious Diseases 2007;0(12):-
Objective To investigate the significance of the serum levels of interleukin-10 (IL-10),IL-13,IL-15 of patients with chronic hepatic failure and the correlation between those inter- leukin levels and nosocomial infections.Methods The serum levels of IL-10,IL-13,IL-15 of 58 patients with chronic hepatic failure were measured by double antibody sandwich enzyme-linked immu- nosorbent assay at the time of admission and 2 weeks after admission.Results The serum levels of IL-15 and the propotion of IL-15/IL-10 and IL-15/IL-13 in patients with chronic hepatic failure group at the time of admission were significantly higher than those in healthy control group[(358.16?290.91) ng/L vs (38.55?21.49) ng/L,12.93?14.26 vs 1.10?0.55,98.55?97.5.5 vs 9.70?5.03,respectively,all P=0.000].Those in death group were significantly higher than those in improving group[(479.93v205.52) ng/L vs (244.51?236.29) ng/L,17.65?17.78 vs 8.53?7.98,130.69?115.50 vs 68.55?65.99,respectively,all P
3.Analysis of HKαα Genotype and Hematological Characteristics in South Guangxi.
Li-Fang LIANG ; Xiu-Ning HUANG ; Dong-Ming LI ; Bi-Yan CHEN ; Xiang CHEN ; Zhen-Ren PENG ; Sheng HE
Journal of Experimental Hematology 2023;31(6):1815-1819
OBJECTIVE:
To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region.
METHODS:
Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed.
RESULTS:
A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, βN/ βN, HKαα/αα, β-28/ βN, HKαα/αα, β-50/ βN, HKαα/αα, βCD17/ βN, HKαα/αα, βCD27/28/β N, HKαα/αα, βCD41-42/ βN, HKαα/αα, βCD71-72/ βN, and HKαα/αα, βN/ βN). Except for most cases with HKαα/αα, βN/ βN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia.
CONCLUSION
HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.
Child
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Female
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Pregnancy
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Humans
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Adult
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beta-Thalassemia/genetics*
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alpha-Thalassemia/genetics*
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China
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Genotype
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Phenotype
;
Mutation
4.Dynamics of peripheral blood lymphocytes and their subpopulations in patients with severe acute respiratory syndrome.
Zhong-ping HE ; Qing-ming DONG ; Hui ZHUANG ; Shu-jing SONG ; Zhi-ying LIU ; Xin FENG
Chinese Journal of Epidemiology 2004;25(2):124-126
OBJECTIVETo study on the dynamics of peripheral blood lymphocytes and their subpopulations in patients with severe acute respiratory syndrome.
METHODSUsing flow cytometry, the absolute numbers of peripheral blood lymphocytes and their subpopulations in 240 SARS patients (696 specimens) and 51 individuals as controls, were counted and compared.
RESULTSThe absolute numbers of peripheral blood lymphocytes and their subpopulations (CD45, CD3, CD4, CD8) were 1298 +/- 785, 897 +/- 606, 510 +/- 372, 362 +/- 263/mm(3), respectively, significantly lower in SARS patients as compared to the normal controls (2024 +/- 423, 1391 +/- 289, 795 +/- 129, 551 +/- 183/mm(3)). Of SARS patients, severe group (1095 +/- 740, 740 +/- 562, 419 +/- 346, 304 +/- 244/mm(3)) had lower counts than that of mild group (1404 +/- 788, 991 +/- 612, 564 +/- 378, 396 +/- 267/mm(3)), and in group with deaths (587 +/- 493, 369 +/- 371, 204 +/- 191, 150 +/- 130/mm(3)) was lower than that of recovery group (1355 +/- 776, 948 +/- 603, 539 +/- 375, 382 +/- 263/mm(3)). There were significant differences (P < 0.01) for CD45, CD3, CD4, CD8, but with no significant difference (P > 0.05) for CD4/CD8 ratio between severe and mild, recovery and death groups. The lymphocytes and their subpopulations (CD45, CD3, CD4, CD8) declined in the 1st week and to the lowest level (977 +/- 579, 641 +/- 466, 360 +/- 275, 270 +/- 216/mm(3)) in the 2nd week. Then the lymphocytes and their subpopulations gradually increased during the recovery of the disease.
CONCLUSIONThe absolute numbers of peripheral blood lymphocytes and their subpopulations in SARS patients might be used as one of the methods for diagnosis on the severity and prognosis of the disease.
Adult ; Aged ; Aged, 80 and over ; Antigens, CD ; blood ; Female ; Flow Cytometry ; Humans ; Lymphocytes ; classification ; immunology ; metabolism ; Male ; Middle Aged ; Severe Acute Respiratory Syndrome ; blood ; Time Factors
5.Rapid detection of genotypes of TT virus using a heteroduplex mobility assay.
Zhong-ping HE ; Hui ZHUANG ; Jun YAO ; Qing-ming DONG ; Wang-su DAI ; Shu-jing SONG
Chinese Journal of Epidemiology 2003;24(9):801-805
OBJECTIVETo establish a simple, sensitive, specific and less-costly method for detecting genotypes of TT virus (TTV).
METHODSTTV DNA was tested by nested polymerase chain reaction (nPCR) in sera from 180 patients with different types of viral hepatitis and 96 normal individuals in Beijing. TTV genotypes were determined in 40 sera collected from TTV DNA positive patients by heteroduplex mobility assay (HMA) and through sequencing.
RESULTSThe positive rates of TTV DNA in viral hepatitis patients and normal individuals were 22.2% (40/180) and 19.8% (19/96), respectively (chi(2) = 0.220, P = 0.639). TTV DNA positive rates of patients with hepatitis A, B, C, E and non-A to E were 20.0% (6/30), 16.7% (5/30), 23.3% (7/30), 36.7% (11/30) and 18.3% (11/60), respectively. Of 40 TTV DNA positive patients, 20 (50.0%) were TTV G1, 7 (17.5%) TTV G2, 10 (25.0%) coinfected with different genotypes of TTV, and 3 untyped by HMA. Twenty G1 and 7 G2 detected by HMA were confirmed by sequence analysis. Of 10 patients coinfected with different genotypes of TTV, 5 were G1 and G2, 2 G1 and G3, 1 G1 and G4, 1 G1 and G3, and 1 with G1, G2 and G3 coinfections.
CONCLUSIONHMA was recognized as simple, sensitive, specific and less-costly, thus could be used for genotyping of TTV.
DNA, Viral ; analysis ; Genotype ; Hepatitis, Viral, Human ; virology ; Heteroduplex Analysis ; methods ; Humans ; Phylogeny ; Torque teno virus ; classification ; genetics
7.Detection for severe acute respiratory syndrome (SARS) coronavirus RNA in stool of SARS patients.
Zhong-ping HE ; Qing-ming DONG ; Shu-jing SONG ; Lin HE ; Hui ZHUANG
Chinese Journal of Preventive Medicine 2004;38(2):90-91
OBJECTIVETo investigate excretion of severe acute respiratory syndrome coronavirus RNA (SARS-CoV) in stool of SARS patients.
METHODSSARS-CoV RNA was detected in stool specimens with fluorescent quantitative polymerase chain reactions (FQ-PCR) in 101 SARS patients on the 10 to 55 days after onset, 27 non-SARS patients and 400 individuals with health check-up.
RESULTSSARS-CoV RNA was positive in stool specimens by FQ-PCR in 58 of 101 SARS patients (57.4%), and all negative in 27 non-SARS patients and 400 healthy individuals. Positive rate of SARS-CoV RNA was 100% (8/8), 67.7% (21/31), 47.4% (27/57) and 40.0% (2/5) on the 10 - 19, 20 - 29, 30 - 39 and 40 - 55 days after onset of fever, respectively, with values of logarithm of SARS-CoV RNA load of 6.06 +/- 2.05, 4.51 +/- 1.23, 3.82 +/- 1.44 and 3.57 +/- 1.25, respectively.
CONCLUSIONPositive rate and load of SARS-CoV RNA in stool of SARS patients was the highest at their acute phase, and decreased with the extension of its course.
China ; Feces ; virology ; Humans ; Polymerase Chain Reaction ; RNA, Viral ; genetics ; metabolism ; SARS Virus ; genetics ; isolation & purification ; Severe Acute Respiratory Syndrome ; virology
8.Detection of SEN virus in sera of patients with chronic hepatitis B and general population in 5 cities of China.
Jie YAN ; Zhong-ping HE ; Hui ZHUANG ; Qing-ming DONG ; Shu-jing SONG ; Lin ZHU ; Xiao-hong WANG
Chinese Journal of Epidemiology 2003;24(1):33-35
OBJECTIVETo study the prevalence of SEN virus (SENV) infection in CHB patients in five cities of China.
METHODSA nest-polymerase chain reaction (nPCR) was used for detection of SENV-D and SENV-H in sera of 595 CHB patients from 5 cities of China and 96 normal individuals from Beijing. A total of 7 SENV strains were analyzed by direct sequencing.
RESULTSThe prevalence rates of SENV in CHB patients and normal individuals were 61.3% and 62.5%, respectively (chi(2) = 0.047, P = 0.829). The prevalence rates of CHB patients between 5 cities were different. Nucleotide sequence analysis showed that the homology between 4 SENV-D strains was 91% - 98% and 95% - 98% between 3 SENV-H strains isolated from 5 cities in China.
CONCLUSIONSENV-D/H were prevalent in CHB patients of China and their prevalence rates were similar to that in normal individuals.
China ; epidemiology ; Circoviridae ; isolation & purification ; Circoviridae Infections ; complications ; epidemiology ; virology ; DNA Virus Infections ; complications ; epidemiology ; virology ; DNA Viruses ; isolation & purification ; DNA, Viral ; analysis ; Hepatitis B, Chronic ; complications ; virology ; Humans ; Phylogeny ; Prevalence
10.Analysis of Gene Mutation Types of Thalassemia in Yulin Childbearing-age Population of Guangxi China.
Dong-Ming LI ; Ji-Hui LI ; De-Min CHEN ; Sheng HE
Journal of Experimental Hematology 2020;28(6):2011-2016
OBJECTIVE:
To investigate the genotype distribution of thalassemia in the population of childbearing age in Yulin area.
METHODS:
The polymerase reaction (PCR) combined with agargel eletrophoresis and reserve dot bolt hybridization was used to detected the α- and β-thalassemia gene in 31 769 cases of suspected thalassemia population at childbearing-age.
RESULTS:
A total of 22 254 cases were identified as thalassemia gene detetion or mutation in 31 769 cases with a detecting rate of 70.05%, and the detecting rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia were 45.86% (14 569/31 769), 19.45% (6 178/31 769) and 4.74% (1 507/31 769) respectively. 28 kinds of α-thalassemia gene mutations were detected, the common mutations were as follows: --
CONCLUSION
The detection rate of thalassemia gene is high in Yulin caildbearing-age population, and there is diversity in mutation spectrums of thalassemia. The most common genotypes are --
China
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Genotype
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Humans
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Mutation
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alpha-Thalassemia/genetics*
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beta-Thalassemia/genetics*