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Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl
Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β(0)-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β(0)-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2017
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613431/ https://www.ncbi.nlm.nih.gov/pubmed/28970692 http://dx.doi.org/10.4103/ajts.AJTS_117_16 |
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author | Panyasai, Sitthichai Rahad, Sarinna Pornprasert, Sakorn |
author_facet | Panyasai, Sitthichai Rahad, Sarinna Pornprasert, Sakorn |
author_sort | Panyasai, Sitthichai |
collection | PubMed |
description | Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β(0)-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β(0)-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g/L and mean corpuscular hemoglobin 18.1 pg) with red blood cell microcytosis (mean corpuscular volume 52.5 fL). By capillary electrophoresis (CE), HbD-Punjab was found at a migration position of 180 s with the value of 81.9% while the level of HbA(2) was 7.3%. Based on the elevated HbA(2), the molecular analysis for detection of β(0)-thalassemia mutations was performed. The 490 bp amplified fragments from β(0)-thalassemia 3.4 kb deletion was observed. Thus, the coinheritance of HbD-Punjab with β(0)-thalassemia can be found in the Thai population. The HbA(2) measured on CE is a reliable parameter for differentiating the homozygote of HbD-Punjab and compound heterozygote of HbD-Punjab and β(0)-thalassemia. |
format | Online Article Text |
id | pubmed-5613431 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-56134312017-10-02 Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl Panyasai, Sitthichai Rahad, Sarinna Pornprasert, Sakorn Asian J Transfus Sci Case Report Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β(0)-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β(0)-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g/L and mean corpuscular hemoglobin 18.1 pg) with red blood cell microcytosis (mean corpuscular volume 52.5 fL). By capillary electrophoresis (CE), HbD-Punjab was found at a migration position of 180 s with the value of 81.9% while the level of HbA(2) was 7.3%. Based on the elevated HbA(2), the molecular analysis for detection of β(0)-thalassemia mutations was performed. The 490 bp amplified fragments from β(0)-thalassemia 3.4 kb deletion was observed. Thus, the coinheritance of HbD-Punjab with β(0)-thalassemia can be found in the Thai population. The HbA(2) measured on CE is a reliable parameter for differentiating the homozygote of HbD-Punjab and compound heterozygote of HbD-Punjab and β(0)-thalassemia. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5613431/ /pubmed/28970692 http://dx.doi.org/10.4103/ajts.AJTS_117_16 Text en Copyright: © 2017 Asian Journal of Transfusion Science http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Panyasai, Sitthichai Rahad, Sarinna Pornprasert, Sakorn Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl |
title | Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl |
title_full | Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl |
title_fullStr | Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl |
title_full_unstemmed | Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl |
title_short | Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl |
title_sort | coinheritance of hemoglobin d-punjab and β(0)-thalassemia 3.4 kb deletion in a thai girl |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613431/ https://www.ncbi.nlm.nih.gov/pubmed/28970692 http://dx.doi.org/10.4103/ajts.AJTS_117_16 |
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