A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran

A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our affected proband. Therefore, beta globin chain seq...

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Autores principales: Soozangar, Narges, Abbaspour, Ehsan, Mokaber, Haleh, Nematollahi, Zahra, Davarnia, Behzad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185494/
https://www.ncbi.nlm.nih.gov/pubmed/37188672
http://dx.doi.org/10.1038/s41439-023-00243-y
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author Soozangar, Narges
Abbaspour, Ehsan
Mokaber, Haleh
Nematollahi, Zahra
Davarnia, Behzad
author_facet Soozangar, Narges
Abbaspour, Ehsan
Mokaber, Haleh
Nematollahi, Zahra
Davarnia, Behzad
author_sort Soozangar, Narges
collection PubMed
description A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our affected proband. Therefore, beta globin chain sequencing of proband discovered a heterozygote combination of the Hb G-Coushatta [b22 (B4) Glu>Ala, HBB: c.68A>C) with HBB: IVS-II-1 (G>A) mutation as a compound heterozygote.
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spelling pubmed-101854942023-05-17 A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran Soozangar, Narges Abbaspour, Ehsan Mokaber, Haleh Nematollahi, Zahra Davarnia, Behzad Hum Genome Var Data Report A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our affected proband. Therefore, beta globin chain sequencing of proband discovered a heterozygote combination of the Hb G-Coushatta [b22 (B4) Glu>Ala, HBB: c.68A>C) with HBB: IVS-II-1 (G>A) mutation as a compound heterozygote. Nature Publishing Group UK 2023-05-15 /pmc/articles/PMC10185494/ /pubmed/37188672 http://dx.doi.org/10.1038/s41439-023-00243-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Soozangar, Narges
Abbaspour, Ehsan
Mokaber, Haleh
Nematollahi, Zahra
Davarnia, Behzad
A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
title A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
title_full A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
title_fullStr A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
title_full_unstemmed A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
title_short A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
title_sort novel compound heterozygous of β-thalassemia with hbg-coushatta: case report of iran
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185494/
https://www.ncbi.nlm.nih.gov/pubmed/37188672
http://dx.doi.org/10.1038/s41439-023-00243-y
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