Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis
© 2017, Indian Society of Haematology & Transfusion Medicine. A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is ver...
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th-cmuir.6653943832-590382018-09-05T04:36:45Z Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis Sitthichai Panyasai Supachai Sakkhachornphop Sakorn Pornprasert Medicine © 2017, Indian Society of Haematology & Transfusion Medicine. A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA2. In this study, HbA2levels of samples which were doubted for compound heterozygous Hb Tak/β-thalassemia or heterozygous HbD-Punjab/β-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC). The molecular confirmation for Hb Tak, HbD-Punjab and β-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A) and IVSI-nt1 (G > T) mutations and 3.4 kb deletion were also performed. Based on DNA analysis, 3 cases were diagnosed as compound heterozygous Hb Tak/β-thalassemia and one for HbD-Punjab/β-thalassemia. The elevated HbA2levels were found in all 4 samples with rages of 4.6–7.3% on CE while those were not found on HPLC. Thus, the elevated HbA2measured by CE can be used as a screening parameter for differentiating the homozygote of Hb Tak and HbD-Punjab from the compound heterozygote of these hemoglobinopathies and β-thalassemia. 2018-09-05T04:36:45Z 2018-09-05T04:36:45Z 2018-01-01 Journal 09740449 09714502 2-s2.0-85017103358 10.1007/s12288-017-0810-3 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85017103358&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/59038 |
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Medicine Sitthichai Panyasai Supachai Sakkhachornphop Sakorn Pornprasert Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis |
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© 2017, Indian Society of Haematology & Transfusion Medicine. A misdiagnosis of β-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the β-variants, can be a cause of inappropriate genetic counseling thus having a new case of β-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA2. In this study, HbA2levels of samples which were doubted for compound heterozygous Hb Tak/β-thalassemia or heterozygous HbD-Punjab/β-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC). The molecular confirmation for Hb Tak, HbD-Punjab and β-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A) and IVSI-nt1 (G > T) mutations and 3.4 kb deletion were also performed. Based on DNA analysis, 3 cases were diagnosed as compound heterozygous Hb Tak/β-thalassemia and one for HbD-Punjab/β-thalassemia. The elevated HbA2levels were found in all 4 samples with rages of 4.6–7.3% on CE while those were not found on HPLC. Thus, the elevated HbA2measured by CE can be used as a screening parameter for differentiating the homozygote of Hb Tak and HbD-Punjab from the compound heterozygote of these hemoglobinopathies and β-thalassemia. |
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Sitthichai Panyasai Supachai Sakkhachornphop Sakorn Pornprasert |
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Sitthichai Panyasai Supachai Sakkhachornphop Sakorn Pornprasert |
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Sitthichai Panyasai |
title |
Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis |
title_short |
Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis |
title_full |
Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis |
title_fullStr |
Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis |
title_full_unstemmed |
Diagnosis of Compound Heterozygous Hb Tak/β-Thalassemia and HbD-Punjab/β-Thalassemia by HbA<inf>2</inf>Levels on Capillary Electrophoresis |
title_sort |
diagnosis of compound heterozygous hb tak/β-thalassemia and hbd-punjab/β-thalassemia by hba<inf>2</inf>levels on capillary electrophoresis |
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2018 |
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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85017103358&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/59038 |
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