Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan

Background: β-Thalassemia (βT) is one of the most common genetic diseases. The specific mutation profile of that region can be identified by determining the specific mutations of each region and ethnicity. Objectives: This study investigated the β-globin mutations in patients with βT in Hamadan....

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Fatemeh Ramezani, Fatemeh Bahreini, Hossein Ranjbar, Ali Reza Soltanian
Formato:	article
Lenguaje:	EN
Publicado:	Hamadan University of Medical Sciences 2021
Materias:	mutation beta-globin beta-thalassemia genetics Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/6346fb6290624dfebacc8ae8ea076898
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:6346fb6290624dfebacc8ae8ea076898
record_format	dspace
spelling	oai:doaj.org-article:6346fb6290624dfebacc8ae8ea0768982021-11-24T07:21:54ZMolecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan10.34172/ajmb.2021.072345-4113https://doaj.org/article/6346fb6290624dfebacc8ae8ea0768982021-06-01T00:00:00Zhttp://ajmb.umsha.ac.ir/PDF/ajmb-9-43.pdfhttps://doaj.org/toc/2345-4113Background: β-Thalassemia (βT) is one of the most common genetic diseases. The specific mutation profile of that region can be identified by determining the specific mutations of each region and ethnicity. Objectives: This study investigated the β-globin mutations in patients with βT in Hamadan. Methods: This cross-sectional study was performed on 47 βT carriers. In the present study, the polymerase chain reaction (PCR)-sequencing technique was used to confirm βT carriers, and data were analyzed with SPSS-16 at a 95% confidence level. Results: In general, 164 individuals (81 men and 83 women) suspected of having thalassemia were examined, where 28.7 % (n=47) of them were identified by PCR-sequencing with βT carriers (48.8% male and 53.2% females). Hemoglobin beta (HBβ): c.251 del, HBβ: c.27dupG, and HBβ: c.92+5G>A mutations had the greatest effect on mean corpuscular volume (MCV) reduction, mean corpuscular HB (MCH) reduction, and HbA2 increment, respectively. The most common mutation in both males and females was the same (HBβ: c.315+1G>A). Conclusion: According to the results, the most common mutations in the diagnosis of βT in Hamadan were serially HBβ: c.315+1G>A mutation and HBβ: c.25-26del, HBβ: c.112del, HBβ: c.20A>T, HBβ: 92+6T>C, and HBβ: c.316-106C>G.Fatemeh RamezaniFatemeh BahreiniHossein RanjbarAli Reza SoltanianHamadan University of Medical Sciencesarticlemutationbeta-globinbeta-thalassemiageneticsMedical technologyR855-855.5ENAvicenna Journal of Medical Biochemistry, Vol 9, Iss 1, Pp 43-47 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	mutation beta-globin beta-thalassemia genetics Medical technology R855-855.5
spellingShingle	mutation beta-globin beta-thalassemia genetics Medical technology R855-855.5 Fatemeh Ramezani Fatemeh Bahreini Hossein Ranjbar Ali Reza Soltanian Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan
description	Background: β-Thalassemia (βT) is one of the most common genetic diseases. The specific mutation profile of that region can be identified by determining the specific mutations of each region and ethnicity. Objectives: This study investigated the β-globin mutations in patients with βT in Hamadan. Methods: This cross-sectional study was performed on 47 βT carriers. In the present study, the polymerase chain reaction (PCR)-sequencing technique was used to confirm βT carriers, and data were analyzed with SPSS-16 at a 95% confidence level. Results: In general, 164 individuals (81 men and 83 women) suspected of having thalassemia were examined, where 28.7 % (n=47) of them were identified by PCR-sequencing with βT carriers (48.8% male and 53.2% females). Hemoglobin beta (HBβ): c.251 del, HBβ: c.27dupG, and HBβ: c.92+5G>A mutations had the greatest effect on mean corpuscular volume (MCV) reduction, mean corpuscular HB (MCH) reduction, and HbA2 increment, respectively. The most common mutation in both males and females was the same (HBβ: c.315+1G>A). Conclusion: According to the results, the most common mutations in the diagnosis of βT in Hamadan were serially HBβ: c.315+1G>A mutation and HBβ: c.25-26del, HBβ: c.112del, HBβ: c.20A>T, HBβ: 92+6T>C, and HBβ: c.316-106C>G.
format	article
author	Fatemeh Ramezani Fatemeh Bahreini Hossein Ranjbar Ali Reza Soltanian
author_facet	Fatemeh Ramezani Fatemeh Bahreini Hossein Ranjbar Ali Reza Soltanian
author_sort	Fatemeh Ramezani
title	Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan
title_short	Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan
title_full	Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan
title_fullStr	Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan
title_full_unstemmed	Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan
title_sort	molecular analysis of β-globin mutations among β-thalassemia patients in hamadan
publisher	Hamadan University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/6346fb6290624dfebacc8ae8ea076898
work_keys_str_mv	AT fatemehramezani molecularanalysisofbglobinmutationsamongbthalassemiapatientsinhamadan AT fatemehbahreini molecularanalysisofbglobinmutationsamongbthalassemiapatientsinhamadan AT hosseinranjbar molecularanalysisofbglobinmutationsamongbthalassemiapatientsinhamadan AT alirezasoltanian molecularanalysisofbglobinmutationsamongbthalassemiapatientsinhamadan
_version_	1718415915398201344

Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan

Ejemplares similares