Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)

BACKGROUND AND OBJECTIVE: Hereditary persistence of fetal hemoglobin (HPFH) and δβ-thalassemia are heterogeneous disorders characterized by elevated levels of fetal hemoglobin (Hb F). Deletional mutations are responsible for the disease and are not recognized by routine hematological tests. The aim...

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Autores principales:	MR Ahmadi Fard, H Akhavan Niaki, H Mahmoodi Nesheli, A Banihashemi, M Azizi, N Mousavi, R Pourbagher, R Yousefi Kamangari
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2012
Materias:	delta beta thalassemia pcr hemoglobin lepore Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/81fc2834a09f4abdb83e659b12c69211
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spelling	oai:doaj.org-article:81fc2834a09f4abdb83e659b12c692112021-11-10T08:53:11ZMolecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)1561-41072251-7170https://doaj.org/article/81fc2834a09f4abdb83e659b12c692112012-05-01T00:00:00Zhttp://jbums.org/article-1-4084-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND AND OBJECTIVE: Hereditary persistence of fetal hemoglobin (HPFH) and δβ-thalassemia are heterogeneous disorders characterized by elevated levels of fetal hemoglobin (Hb F). Deletional mutations are responsible for the disease and are not recognized by routine hematological tests. The aim of this study was to perform a molecular characterization of beta globin gene cluster deletions in anemic patients referred to the genetic laboratory of Amirkola children hospital.METHODS: In this cross sectional study, thirty patients (14 females and 16 males) with mild microcytic hypochromic anemia with hematologic index (MCV<80 fl, MCH<27 pg, variable HbA2 and high level of Hb F) were tested for the 3 common delta beta deletional mutations: Sicilian δβ-thalassemia, Asian-lndian inversion-deletion γδβ-thalssemia and hemoglobin Lepore using Gap-PCR technique. FINDINGS: Sicilian, Asian-lndian γδβ-thalssemia deletions as well as the Hb Lepore were found respectively in 6 (20%), 6 (20%) and 1 (3.33%) patients and 17 cases remained uncharacterized.CONCLUSION: Regarding the presence of different forms of deletion in beta globin gene cluster in this region, molecular characterization of these mutations is important in at risk couples presenting microcytic anemia and should be considered in premarital screening and prenatal diagnosis centers for a more efficient thalassemia major prevention program.MR Ahmadi FardH Akhavan NiakiH Mahmoodi NesheliA BanihashemiM AziziN MousaviR PourbagherR Yousefi KamangariBabol University of Medical Sciencesarticledelta beta thalassemiapcrhemoglobin leporeMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 14, Iss 3, Pp 13-18 (2012)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	delta beta thalassemia pcr hemoglobin lepore Medicine R Medicine (General) R5-920
spellingShingle	delta beta thalassemia pcr hemoglobin lepore Medicine R Medicine (General) R5-920 MR Ahmadi Fard H Akhavan Niaki H Mahmoodi Nesheli A Banihashemi M Azizi N Mousavi R Pourbagher R Yousefi Kamangari Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)
description	BACKGROUND AND OBJECTIVE: Hereditary persistence of fetal hemoglobin (HPFH) and δβ-thalassemia are heterogeneous disorders characterized by elevated levels of fetal hemoglobin (Hb F). Deletional mutations are responsible for the disease and are not recognized by routine hematological tests. The aim of this study was to perform a molecular characterization of beta globin gene cluster deletions in anemic patients referred to the genetic laboratory of Amirkola children hospital.METHODS: In this cross sectional study, thirty patients (14 females and 16 males) with mild microcytic hypochromic anemia with hematologic index (MCV<80 fl, MCH<27 pg, variable HbA2 and high level of Hb F) were tested for the 3 common delta beta deletional mutations: Sicilian δβ-thalassemia, Asian-lndian inversion-deletion γδβ-thalssemia and hemoglobin Lepore using Gap-PCR technique. FINDINGS: Sicilian, Asian-lndian γδβ-thalssemia deletions as well as the Hb Lepore were found respectively in 6 (20%), 6 (20%) and 1 (3.33%) patients and 17 cases remained uncharacterized.CONCLUSION: Regarding the presence of different forms of deletion in beta globin gene cluster in this region, molecular characterization of these mutations is important in at risk couples presenting microcytic anemia and should be considered in premarital screening and prenatal diagnosis centers for a more efficient thalassemia major prevention program.
format	article
author	MR Ahmadi Fard H Akhavan Niaki H Mahmoodi Nesheli A Banihashemi M Azizi N Mousavi R Pourbagher R Yousefi Kamangari
author_facet	MR Ahmadi Fard H Akhavan Niaki H Mahmoodi Nesheli A Banihashemi M Azizi N Mousavi R Pourbagher R Yousefi Kamangari
author_sort	MR Ahmadi Fard
title	Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)
title_short	Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)
title_full	Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)
title_fullStr	Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)
title_full_unstemmed	Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)
title_sort	molecular investigation of beta globin gene cluster deletions in anemic patients referred to the genetic laboratory of amirkola children hospital (iran)
publisher	Babol University of Medical Sciences
publishDate	2012
url	https://doaj.org/article/81fc2834a09f4abdb83e659b12c69211
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Molecular Investigation of Beta Globin Gene Cluster Deletions in Anemic Patients Referred to the Genetic Laboratory of Amirkola Children Hospital (Iran)

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