Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters
We describe the screening of newborns for thalassemia and Hb variants by using isoelectric focusing (IEF) in a population from northern Thailand where hemoglobinopathies are highly prevalent. The report focuses on findings of Α-thalassemia, Hb E, and other hemoglobin variants, and their correlation...
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th-cmuir.6653943832-505622018-09-04T04:50:59Z Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters Pimlak Charoenkwan Rawee Taweephol Supatra Sirichotiyakul Watcharee Tantiprabha Rattika Sae-Tung Sudjai Suanta Pimonrat Sakdasirisathaporn Torpong Sanguansermsri Biochemistry, Genetics and Molecular Biology Medicine We describe the screening of newborns for thalassemia and Hb variants by using isoelectric focusing (IEF) in a population from northern Thailand where hemoglobinopathies are highly prevalent. The report focuses on findings of Α-thalassemia, Hb E, and other hemoglobin variants, and their correlation with genotypes and hematologic parameters. Two-hundred and seven out of 566 newborns (36.6%) had thalassemia genes or Hb variants. Seventeen different genotypes were found. Nine cases (1.6%) of Hb H disease (five deletional Hb H diseases, two Hb H/Constant Spring diseases, one deletional Hb H disease/Hb E, carrier and one Hb H/Constant Spring disease/Hb E carrier) and one Hb E-Β-thalassemia were identified. IEF could clearly distinguish Hb H diseases and carriers of two Α-globin gene defects from normal individuals according to the presence of Hb Bart's and its percentage. For carriers of a single Α-globin gene defect, Hb Bart's was either absent or present in a small amount and was therefore not reliable for screening. The presence of an additional band at the Hb A2 position in the newborns signified an Hb E carrier. One case of an absent Hb A and a presence of Hb E was identified as Hb E-Β-thalassemia. Two Hb Q-Thailand carriers were seen with two additional Hb fractions, presumably combinations of Γ-globin and Β-globin with the Α-globin variant. Newborns with Hb H disease had lower Hb, MCV, and MCH levels than normal. MCV and MCH were also useful for differentiation of carriers of two Α-globin gene defects, but not for carriers of Hb E or single Α-globin gene defect. IEF was a reliable method for neonatal cord blood screening for Α-thalassemia and Hb variants. © 2010 Elsevier Inc. 2018-09-04T04:42:24Z 2018-09-04T04:42:24Z 2010-06-01 Journal 10799796 2-s2.0-77953132696 10.1016/j.bcmd.2010.02.015 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=77953132696&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/50562 |
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Biochemistry, Genetics and Molecular Biology Medicine Pimlak Charoenkwan Rawee Taweephol Supatra Sirichotiyakul Watcharee Tantiprabha Rattika Sae-Tung Sudjai Suanta Pimonrat Sakdasirisathaporn Torpong Sanguansermsri Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters |
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We describe the screening of newborns for thalassemia and Hb variants by using isoelectric focusing (IEF) in a population from northern Thailand where hemoglobinopathies are highly prevalent. The report focuses on findings of Α-thalassemia, Hb E, and other hemoglobin variants, and their correlation with genotypes and hematologic parameters. Two-hundred and seven out of 566 newborns (36.6%) had thalassemia genes or Hb variants. Seventeen different genotypes were found. Nine cases (1.6%) of Hb H disease (five deletional Hb H diseases, two Hb H/Constant Spring diseases, one deletional Hb H disease/Hb E, carrier and one Hb H/Constant Spring disease/Hb E carrier) and one Hb E-Β-thalassemia were identified. IEF could clearly distinguish Hb H diseases and carriers of two Α-globin gene defects from normal individuals according to the presence of Hb Bart's and its percentage. For carriers of a single Α-globin gene defect, Hb Bart's was either absent or present in a small amount and was therefore not reliable for screening. The presence of an additional band at the Hb A2 position in the newborns signified an Hb E carrier. One case of an absent Hb A and a presence of Hb E was identified as Hb E-Β-thalassemia. Two Hb Q-Thailand carriers were seen with two additional Hb fractions, presumably combinations of Γ-globin and Β-globin with the Α-globin variant. Newborns with Hb H disease had lower Hb, MCV, and MCH levels than normal. MCV and MCH were also useful for differentiation of carriers of two Α-globin gene defects, but not for carriers of Hb E or single Α-globin gene defect. IEF was a reliable method for neonatal cord blood screening for Α-thalassemia and Hb variants. © 2010 Elsevier Inc. |
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Pimlak Charoenkwan Rawee Taweephol Supatra Sirichotiyakul Watcharee Tantiprabha Rattika Sae-Tung Sudjai Suanta Pimonrat Sakdasirisathaporn Torpong Sanguansermsri |
author_facet |
Pimlak Charoenkwan Rawee Taweephol Supatra Sirichotiyakul Watcharee Tantiprabha Rattika Sae-Tung Sudjai Suanta Pimonrat Sakdasirisathaporn Torpong Sanguansermsri |
author_sort |
Pimlak Charoenkwan |
title |
Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters |
title_short |
Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters |
title_full |
Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters |
title_fullStr |
Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters |
title_full_unstemmed |
Cord blood screening for Α-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: Correlation with genotypes and hematologic parameters |
title_sort |
cord blood screening for α-thalassemia and hemoglobin variants by isoelectric focusing in northern thai neonates: correlation with genotypes and hematologic parameters |
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2018 |
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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=77953132696&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/50562 |
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1681423612190392320 |