Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman

© 2018, Medical Association of Thailand. All rights reserved. Hemoglobin [Hb] J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] is a very rare α-globin chain variant. In the present study, the authors reported, for the first time, the Hb J-Singapore in a 31-year-old Thai pregnant woman. She was seen by an o...

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Main Authors: Sitthichai Panyasai, Nopphadol Permsripong, Sakorn Pornprasert
Format: Journal
Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/59043
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spelling th-cmuir.6653943832-590432018-09-05T04:36:50Z Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman Sitthichai Panyasai Nopphadol Permsripong Sakorn Pornprasert Medicine © 2018, Medical Association of Thailand. All rights reserved. Hemoglobin [Hb] J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] is a very rare α-globin chain variant. In the present study, the authors reported, for the first time, the Hb J-Singapore in a 31-year-old Thai pregnant woman. She was seen by an obstetrician at her fifteenth week of gestation. Based on routine antenatal thalassemia and hemoglobinopathy screening, her Hb analysis was performed by high performance liquid chromatography [HPLC] and the abnormal Hb peak with a value of 23.6% was observed at the retention time of 1.83 minutes. The abnormal Hb peak was also found at zone 12 of capillary electrophoresis [CE] electrophoregram, which was similar to the peak of Hb Bart’s and Hb J-Buda. The direct DNA sequencing revealed the GCG>GGG mutation at codon 79 of α2-globin gene as previously described for Hb J-Singapore. In addition, the developed multiplex allele specific polymerase chain reaction [MAS-PCR] showed the 632 bp amplified fragment from Hb J-Singapore allele. Thus, the knowledge and understanding of this hemoglobinopathy will be used to assist in diagnosis, management, and counseling for needed patients. 2018-09-05T04:36:50Z 2018-09-05T04:36:50Z 2018-01-01 Journal 01252208 2-s2.0-85044319757 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85044319757&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/59043
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Medicine
spellingShingle Medicine
Sitthichai Panyasai
Nopphadol Permsripong
Sakorn Pornprasert
Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman
description © 2018, Medical Association of Thailand. All rights reserved. Hemoglobin [Hb] J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] is a very rare α-globin chain variant. In the present study, the authors reported, for the first time, the Hb J-Singapore in a 31-year-old Thai pregnant woman. She was seen by an obstetrician at her fifteenth week of gestation. Based on routine antenatal thalassemia and hemoglobinopathy screening, her Hb analysis was performed by high performance liquid chromatography [HPLC] and the abnormal Hb peak with a value of 23.6% was observed at the retention time of 1.83 minutes. The abnormal Hb peak was also found at zone 12 of capillary electrophoresis [CE] electrophoregram, which was similar to the peak of Hb Bart’s and Hb J-Buda. The direct DNA sequencing revealed the GCG>GGG mutation at codon 79 of α2-globin gene as previously described for Hb J-Singapore. In addition, the developed multiplex allele specific polymerase chain reaction [MAS-PCR] showed the 632 bp amplified fragment from Hb J-Singapore allele. Thus, the knowledge and understanding of this hemoglobinopathy will be used to assist in diagnosis, management, and counseling for needed patients.
format Journal
author Sitthichai Panyasai
Nopphadol Permsripong
Sakorn Pornprasert
author_facet Sitthichai Panyasai
Nopphadol Permsripong
Sakorn Pornprasert
author_sort Sitthichai Panyasai
title Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman
title_short Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman
title_full Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman
title_fullStr Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman
title_full_unstemmed Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] in a pregnant Thai woman
title_sort hemoglobin j-singapore [α79(ef8)ala→gly, gcg>ggg] in a pregnant thai woman
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85044319757&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/59043
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