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Hemoglobin Q-Iran detected in family members from Northern Iran: a case report

INTRODUCTION: Hemoglobin Q-Iran (α75Asp→His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine. The first report of hemoglobin Q-Iran and the nomenclature of this hemoglobinopathy dates back to 1970. Iran is known as a count...

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Autores principales: Khorshidi, Mohammad, Roshan, Payam, Bayat, Nooshin, Mahdavi, Mohammad Reza, Najmabadi, Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293005/
https://www.ncbi.nlm.nih.gov/pubmed/22309992
http://dx.doi.org/10.1186/1752-1947-6-47
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author Khorshidi, Mohammad
Roshan, Payam
Bayat, Nooshin
Mahdavi, Mohammad Reza
Najmabadi, Hossein
author_facet Khorshidi, Mohammad
Roshan, Payam
Bayat, Nooshin
Mahdavi, Mohammad Reza
Najmabadi, Hossein
author_sort Khorshidi, Mohammad
collection PubMed
description INTRODUCTION: Hemoglobin Q-Iran (α75Asp→His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine. The first report of hemoglobin Q-Iran and the nomenclature of this hemoglobinopathy dates back to 1970. Iran is known as a country with a high prevalence of α- and β-thalassemia and different types of hemoglobinopathy. Many of these variants are yet to be identified as the practice of molecular laboratory techniques is limited in this part of the world. Applying such molecular methods, we report the first hemoglobin Q-Iran cases in Northern Iran. CASE PRESENTATION: An unusual band was detected in an isoelectric focusing test and cellulose acetate electrophoresis of a sample from a 22-year-old Iranian man from Mazandaran Province. Capillary zone electrophoresis analysis identified this band as hemoglobin Q. A similar band was also detected in his mother's electrophoresis (38 years, Iranian ethnicity). The cases underwent molecular investigation and the presence of a hemoglobin Q-Iran mutation was confirmed by the amplification refractory mutation system polymerase chain reaction method. Direct conventional sequencing revealed a single guanine to cytosine missense mutation (c.226G > C; GAC >CAC) at codon 75 in the α-globin gene in both cases. CONCLUSION: The wide spectrum and high frequency of nondeletional α-globin mutations in Mazandaran Province is remarkable and seem to differ considerably from what has been found in Mediterranean populations. This short communication reports the first cases of patients with hemoglobin Q found in that region.
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spelling pubmed-32930052012-03-05 Hemoglobin Q-Iran detected in family members from Northern Iran: a case report Khorshidi, Mohammad Roshan, Payam Bayat, Nooshin Mahdavi, Mohammad Reza Najmabadi, Hossein J Med Case Reports Case Report INTRODUCTION: Hemoglobin Q-Iran (α75Asp→His) is an important member of the hemoglobin Q family, molecularly characterized by the replacement of aspartic acid by histidine. The first report of hemoglobin Q-Iran and the nomenclature of this hemoglobinopathy dates back to 1970. Iran is known as a country with a high prevalence of α- and β-thalassemia and different types of hemoglobinopathy. Many of these variants are yet to be identified as the practice of molecular laboratory techniques is limited in this part of the world. Applying such molecular methods, we report the first hemoglobin Q-Iran cases in Northern Iran. CASE PRESENTATION: An unusual band was detected in an isoelectric focusing test and cellulose acetate electrophoresis of a sample from a 22-year-old Iranian man from Mazandaran Province. Capillary zone electrophoresis analysis identified this band as hemoglobin Q. A similar band was also detected in his mother's electrophoresis (38 years, Iranian ethnicity). The cases underwent molecular investigation and the presence of a hemoglobin Q-Iran mutation was confirmed by the amplification refractory mutation system polymerase chain reaction method. Direct conventional sequencing revealed a single guanine to cytosine missense mutation (c.226G > C; GAC >CAC) at codon 75 in the α-globin gene in both cases. CONCLUSION: The wide spectrum and high frequency of nondeletional α-globin mutations in Mazandaran Province is remarkable and seem to differ considerably from what has been found in Mediterranean populations. This short communication reports the first cases of patients with hemoglobin Q found in that region. BioMed Central 2012-02-06 /pmc/articles/PMC3293005/ /pubmed/22309992 http://dx.doi.org/10.1186/1752-1947-6-47 Text en Copyright ©2012 Khorshidi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Khorshidi, Mohammad
Roshan, Payam
Bayat, Nooshin
Mahdavi, Mohammad Reza
Najmabadi, Hossein
Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
title Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
title_full Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
title_fullStr Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
title_full_unstemmed Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
title_short Hemoglobin Q-Iran detected in family members from Northern Iran: a case report
title_sort hemoglobin q-iran detected in family members from northern iran: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293005/
https://www.ncbi.nlm.nih.gov/pubmed/22309992
http://dx.doi.org/10.1186/1752-1947-6-47
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