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Hemoglobin E syndromes in Pakistani population
BACKGROUND: Hemoglobin E is an important hemoglobin variant with a worldwide distribution. A number of hemoglobinopathies have been reported from Pakistan. However a comprehensive description of hemoglobin E syndromes for the country was never made. This study aimed to describe various hemoglobin E...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329421/ https://www.ncbi.nlm.nih.gov/pubmed/22443415 http://dx.doi.org/10.1186/1471-2326-12-3 |
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author | Moiz, Bushra Hashmi, Mashhooda Rasool Nasir, Amna Rashid, Anila Moatter, Tariq |
author_facet | Moiz, Bushra Hashmi, Mashhooda Rasool Nasir, Amna Rashid, Anila Moatter, Tariq |
author_sort | Moiz, Bushra |
collection | PubMed |
description | BACKGROUND: Hemoglobin E is an important hemoglobin variant with a worldwide distribution. A number of hemoglobinopathies have been reported from Pakistan. However a comprehensive description of hemoglobin E syndromes for the country was never made. This study aimed to describe various hemoglobin E disorders based on hematological parameters and chromatography. The sub-aim was to characterize hemoglobin E at molecular level. METHODS: This was a hospital based study conducted prospectively for a period of one year extending from January 1 to December 31, 2008. EDTA blood samples were analyzed for completed blood counts and hemoglobin variants through automated hematology analyzer and Bio-Rad beta thalassaemia short program respectively. Six samples were randomly selected to characterize HbE at molecular level through RFLP-PCR utilizing MnlI restriction enzyme. RESULTS: During the study period, 11403 chromatograms were analyzed and Hb E was detected in 41 (or 0.36%) samples. Different hemoglobin E syndromes identified were HbEA (n = 20 or 49%), HbE/β-thalassemia (n = 14 or 34%), HbEE (n = 6 or 15%) and HbE/HbS (n = 1 or 2%). Compound heterozygosity for HbE and beta thalassaemia was found to be the most severely affected phenotype. RFLP-PCR utilizing MnlI successfully characterized HbE at molecular level in six randomly selected samples. CONCLUSIONS: Various HbE phenotypes are prevalent in Pakistan with HbEA and HbE/β thalassaemia representing the most common syndromes. Chromatography cannot only successfully identify hemoglobin E but also assist in further characterization into its phenotype including compound heterozygosity. Definitive diagnosis of HbE can easily be achieved through RFLP-PCR. |
format | Online Article Text |
id | pubmed-3329421 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-33294212012-04-19 Hemoglobin E syndromes in Pakistani population Moiz, Bushra Hashmi, Mashhooda Rasool Nasir, Amna Rashid, Anila Moatter, Tariq BMC Blood Disord Research Article BACKGROUND: Hemoglobin E is an important hemoglobin variant with a worldwide distribution. A number of hemoglobinopathies have been reported from Pakistan. However a comprehensive description of hemoglobin E syndromes for the country was never made. This study aimed to describe various hemoglobin E disorders based on hematological parameters and chromatography. The sub-aim was to characterize hemoglobin E at molecular level. METHODS: This was a hospital based study conducted prospectively for a period of one year extending from January 1 to December 31, 2008. EDTA blood samples were analyzed for completed blood counts and hemoglobin variants through automated hematology analyzer and Bio-Rad beta thalassaemia short program respectively. Six samples were randomly selected to characterize HbE at molecular level through RFLP-PCR utilizing MnlI restriction enzyme. RESULTS: During the study period, 11403 chromatograms were analyzed and Hb E was detected in 41 (or 0.36%) samples. Different hemoglobin E syndromes identified were HbEA (n = 20 or 49%), HbE/β-thalassemia (n = 14 or 34%), HbEE (n = 6 or 15%) and HbE/HbS (n = 1 or 2%). Compound heterozygosity for HbE and beta thalassaemia was found to be the most severely affected phenotype. RFLP-PCR utilizing MnlI successfully characterized HbE at molecular level in six randomly selected samples. CONCLUSIONS: Various HbE phenotypes are prevalent in Pakistan with HbEA and HbE/β thalassaemia representing the most common syndromes. Chromatography cannot only successfully identify hemoglobin E but also assist in further characterization into its phenotype including compound heterozygosity. Definitive diagnosis of HbE can easily be achieved through RFLP-PCR. BioMed Central 2012-03-25 /pmc/articles/PMC3329421/ /pubmed/22443415 http://dx.doi.org/10.1186/1471-2326-12-3 Text en Copyright ©2012 Moiz 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 | Research Article Moiz, Bushra Hashmi, Mashhooda Rasool Nasir, Amna Rashid, Anila Moatter, Tariq Hemoglobin E syndromes in Pakistani population |
title | Hemoglobin E syndromes in Pakistani population |
title_full | Hemoglobin E syndromes in Pakistani population |
title_fullStr | Hemoglobin E syndromes in Pakistani population |
title_full_unstemmed | Hemoglobin E syndromes in Pakistani population |
title_short | Hemoglobin E syndromes in Pakistani population |
title_sort | hemoglobin e syndromes in pakistani population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329421/ https://www.ncbi.nlm.nih.gov/pubmed/22443415 http://dx.doi.org/10.1186/1471-2326-12-3 |
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