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Yunnan thalassemia and application of genetic epidemiology hemoglobin electrophoresis screening of thalassemia

Author: XuXiangHu
Tutor: ZhuBaoSheng
School: Kunming Medical College
Course: Biochemistry and Molecular Biology
Keywords: Thalassemia Screening Genetic Epidemiology Hemoglobin electrophoresis Cutoff value
CLC: R556
Type: Master's thesis
Year: 2011
Downloads: 107
Quote: 1
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Abstract


Objective To study the genetic epidemiology of thalassemia in Yunnan Province, Yunnan Province, thalassemia genes identified carriage rates; contrast with the province of Yunnan native origin, as well as various ethnic groups in Yunnan Province, between regions hemoglobin electrophoresis screening results infer thalassemia incidence; explore Yunnan thalassemia hemoglobin electrophoresis screening cutoff value for the Yunnan region thalassemia screening for hemoglobin electrophoresis to provide a more appropriate cut-off value. Hemoglobin electrophoresis analysis of data and methods of screening results and select from 10,181 cases were 340 cases of suspected thalassemia gene diagnosis, combining data and patient blood origin, ethnicity, using X2 test and T test was used for statistical analysis, comparing various ethnic groups, without significant differences between regions. ROC curve using normal figure combines a variety of hemoglobin, especially Hb A2 and Hb F diagnostic significance and optimal cutoff values ​​were discussed. Results 1 in 10,181 cases of hemoglobin electrophoresis screening samples, can be detected in the six kinds of α-thalassemia carriers of 1.05% of the total population, Yunnan can be detected in the 18 kinds of β-thalassemia carriers of the total population 3.55% infer Yunnan thalassemia carriers can be detected in 4.60% of the total population. This result and the actual situation may be slightly bias. (2) (a) does not appear abnormal bands crowd, Hb A2 content (%) of the distribution is approximately normally distributed with a mean of 2.82, standard deviation of 0.411: α-thalassemia gene carriers, Hb A2 levels ( %) of the distribution is approximately normally distributed with a mean of 2.17, standard deviation of 0.317; β thalassemia gene carriers, Hb A2 content (%) of the distribution is approximately normally distributed with a mean of 5.30, standard deviation is 0.898. (2) Hb F content (%) no obvious pattern of distribution. (3) α-thalassemia gene carriers of Hb, MCH with no significant difference between normal and MCV statistically significant; β thalassemia gene carriers with normal Hb was no significant difference, while statistically MCV and MCH Learn the difference. 3 (1) Yunnan α-thalassemia hemoglobin electrophoresis screening criteria for determining positive suggestions as: the emergence of Hb CS tape, or if Hb Bart's belt, or if Hb H band, or Hb A2 lt; 2.8%. (2) high sensitivity p thalassemia hemoglobin electrophoresis screening criteria for determining positive suggestions as: Hb A2 gt; 3.5%, or Hb F gt; 2.0%, or if Hb E band; specificity higher β thalassemia hemoglobin electrophoresis screening criteria for determining positive suggestions as: Hb A2 gt; 4.5%, or if Hb E band. (3) detection of the failure to effectively cause Hb D, Hb J, Hb Hope and Hb S and abnormal hemoglobin gene mutation, it is recommended not to strip the abnormal hemoglobin thalassemia positive phenotype of the diagnostic criteria. 4 In the 91 cases of α-thalassemia phenotype positive samples, 18 were detected in α-thalassemia mutations. Genetic diagnosis coincidence rate was 19.8%; 174 cases of β-thalassemia phenotype positive samples, 81 people detected β thalassemia genes. Genetic diagnosis coincidence rate was 46.6%. Conclusions 1. Yunnan is a high incidence of thalassemia, it is necessary to carry out a wide range of prenatal, pregnancy screening, to achieve improved quality of the population, to prevent birth defects purposes. (2) the incidence of thalassemia in different regions and ethnic differences exist between the various regions depending on the local situation should determine the appropriate screening cutoff value. 3 From the perspective of genetic diagnosis consistent, hemoglobin electrophoresis screening and blood screening for β thalassemia screening results are better than α-thalassemia.

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CLC: > Medicine, health > Internal Medicine > Blood and lymphatic system diseases > Blood diseases > Anemia
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