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Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan
BACKGROUND: Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded by HAMP and HFE genes. Mutation in either HAMP gene or HFE gene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients. The aim of this research work was to study the...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507326/ https://www.ncbi.nlm.nih.gov/pubmed/32588561 http://dx.doi.org/10.1002/mgg3.1310 |
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author | Shah, Maryam Danish, Lubna Khan, Najeeb U. Zaman, Fakhar Ismail, Muhammad Hussain, Mehfooz Pervaiz, Ruqiya Iqbal, Aqib |
author_facet | Shah, Maryam Danish, Lubna Khan, Najeeb U. Zaman, Fakhar Ismail, Muhammad Hussain, Mehfooz Pervaiz, Ruqiya Iqbal, Aqib |
author_sort | Shah, Maryam |
collection | PubMed |
description | BACKGROUND: Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded by HAMP and HFE genes. Mutation in either HAMP gene or HFE gene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients. The aim of this research work was to study the presence of G71D mutation of HAMP gene and H63D mutation of HFE gene in beta thalassemia major and minor group to check the association of these mutations with serum ferritin level of beta thalassemia patients. METHODS: The study was conducted on 42 beta thalassemia major and 20 beta thalassemia minor samples along with 20 control samples. The genotyping of both mutations has done by ARM‐PCR technique with specific set of primers. RESULTS: Significant effect of G71D and H63D mutations was observed on serum ferritin level of thalassemia major group. The risk allele of HAMP G71D and HFE H63D was found with high frequency (48% and 49%, respectively) in beta thalassemia major than in control group. High genotypic frequency of HAMP and HFE gene mutation gene mutation was observed in beta thalassemia major than beta thalassemia minor and control group (7% and 9%, respectively). CONCLUSION: It can be concluded that both HAMP and HFE gene mutations show high frequency in beta thalassemia major patients and mean significant association between mutations and high serum ferritin level of beta thalassemia major patients but the nonsignificant results of Odd ratios showed that both mutations do not act as major risk factor in beta thalassemia major. |
format | Online Article Text |
id | pubmed-7507326 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75073262020-09-28 Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan Shah, Maryam Danish, Lubna Khan, Najeeb U. Zaman, Fakhar Ismail, Muhammad Hussain, Mehfooz Pervaiz, Ruqiya Iqbal, Aqib Mol Genet Genomic Med Original Articles BACKGROUND: Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded by HAMP and HFE genes. Mutation in either HAMP gene or HFE gene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients. The aim of this research work was to study the presence of G71D mutation of HAMP gene and H63D mutation of HFE gene in beta thalassemia major and minor group to check the association of these mutations with serum ferritin level of beta thalassemia patients. METHODS: The study was conducted on 42 beta thalassemia major and 20 beta thalassemia minor samples along with 20 control samples. The genotyping of both mutations has done by ARM‐PCR technique with specific set of primers. RESULTS: Significant effect of G71D and H63D mutations was observed on serum ferritin level of thalassemia major group. The risk allele of HAMP G71D and HFE H63D was found with high frequency (48% and 49%, respectively) in beta thalassemia major than in control group. High genotypic frequency of HAMP and HFE gene mutation gene mutation was observed in beta thalassemia major than beta thalassemia minor and control group (7% and 9%, respectively). CONCLUSION: It can be concluded that both HAMP and HFE gene mutations show high frequency in beta thalassemia major patients and mean significant association between mutations and high serum ferritin level of beta thalassemia major patients but the nonsignificant results of Odd ratios showed that both mutations do not act as major risk factor in beta thalassemia major. John Wiley and Sons Inc. 2020-06-25 /pmc/articles/PMC7507326/ /pubmed/32588561 http://dx.doi.org/10.1002/mgg3.1310 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Shah, Maryam Danish, Lubna Khan, Najeeb U. Zaman, Fakhar Ismail, Muhammad Hussain, Mehfooz Pervaiz, Ruqiya Iqbal, Aqib Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan |
title | Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan |
title_full | Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan |
title_fullStr | Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan |
title_full_unstemmed | Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan |
title_short | Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan |
title_sort | determination of mutations in iron regulating genes of beta thalassemia major patients of khyber pakhtunkhwa, pakistan |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507326/ https://www.ncbi.nlm.nih.gov/pubmed/32588561 http://dx.doi.org/10.1002/mgg3.1310 |
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