Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis
To determine the accuracy of prenatal diagnosis of β-thalassemia (β-thal)/Hb E disease using fetal hemoglobin (Hb) typing compared to DNA analysis, automated DNA sequencing was performed on 98 blood samples from fetuses diagnosed as β-thal/Hb E by Hb typing. Thirteen samples from homozygous Hb E fet...
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th-cmuir.6653943832-29062014-08-30T02:25:32Z Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis Sirichotiyakul S. Saetung R. Sanguansermsri T. To determine the accuracy of prenatal diagnosis of β-thalassemia (β-thal)/Hb E disease using fetal hemoglobin (Hb) typing compared to DNA analysis, automated DNA sequencing was performed on 98 blood samples from fetuses diagnosed as β-thal/Hb E by Hb typing. Thirteen samples from homozygous Hb E fetuses were also collected. The Hb patterns obtained by high performance liquid chromatography (HPLC) from both groups were analyzed. The codon 26 (G>A) mutation was identified in all 98 samples. The β-globin gene mutation was identified in 97 cases by DNA sequencing and the 3.4 kb deletion by polymerase chain reaction (PCR) in one case. The result from DNA analysis was in agreement with the HPLC result in all samples. In β-thal/Hb E fetuses, the Hb A level was 0-0.3% and mean Hb A2(E) level was 1.3 ± 0.3%. In homozygous Hb E fetuses, the Hb A level was 0% and mean Hb A2(E) level was 2.48 ± 0.6%. The Hb pattern obtained by HPLC on fetal blood is a reliable and accurate method for prenatal diagnosis of this disease. Copyright © Informa Healthcare USA, Inc. 2014-08-30T02:25:32Z 2014-08-30T02:25:32Z 2009 Article 03630269 10.1080/03630260802626046 19205969 HEMOD http://www.scopus.com/inward/record.url?eid=2-s2.0-60749106077&partnerID=40&md5=fb49bba6a6dd515bbafd53a780ff0d06 http://cmuir.cmu.ac.th/handle/6653943832/2906 English |
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To determine the accuracy of prenatal diagnosis of β-thalassemia (β-thal)/Hb E disease using fetal hemoglobin (Hb) typing compared to DNA analysis, automated DNA sequencing was performed on 98 blood samples from fetuses diagnosed as β-thal/Hb E by Hb typing. Thirteen samples from homozygous Hb E fetuses were also collected. The Hb patterns obtained by high performance liquid chromatography (HPLC) from both groups were analyzed. The codon 26 (G>A) mutation was identified in all 98 samples. The β-globin gene mutation was identified in 97 cases by DNA sequencing and the 3.4 kb deletion by polymerase chain reaction (PCR) in one case. The result from DNA analysis was in agreement with the HPLC result in all samples. In β-thal/Hb E fetuses, the Hb A level was 0-0.3% and mean Hb A2(E) level was 1.3 ± 0.3%. In homozygous Hb E fetuses, the Hb A level was 0% and mean Hb A2(E) level was 2.48 ± 0.6%. The Hb pattern obtained by HPLC on fetal blood is a reliable and accurate method for prenatal diagnosis of this disease. Copyright © Informa Healthcare USA, Inc. |
format |
Article |
author |
Sirichotiyakul S. Saetung R. Sanguansermsri T. |
spellingShingle |
Sirichotiyakul S. Saetung R. Sanguansermsri T. Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis |
author_facet |
Sirichotiyakul S. Saetung R. Sanguansermsri T. |
author_sort |
Sirichotiyakul S. |
title |
Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis |
title_short |
Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis |
title_full |
Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis |
title_fullStr |
Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis |
title_full_unstemmed |
Prenatal diagnosis of β-thalassemia/Hb E by hemoglobin typing compared to DNA analysis |
title_sort |
prenatal diagnosis of β-thalassemia/hb e by hemoglobin typing compared to dna analysis |
publishDate |
2014 |
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http://www.scopus.com/inward/record.url?eid=2-s2.0-60749106077&partnerID=40&md5=fb49bba6a6dd515bbafd53a780ff0d06 http://cmuir.cmu.ac.th/handle/6653943832/2906 |
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