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Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study
In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the β-gene. β° refers to the complete absence of production of β-globin on the affected allele. β(+) refers to alleles with some residual production of β-globin. The homozygous state results in s...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286337/ https://www.ncbi.nlm.nih.gov/pubmed/30531823 http://dx.doi.org/10.1038/s41598-018-36175-9 |
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author | Hassan, Tamer Zakaria, Marwa Fathy, Manar Arafa, Mohamed El Gebaly, Sherif Emam, Ahmed Abdel Wahab, Attia Shehab, Mohamed Salah, Hosam Malek, Mai El Gerby, Khaled |
author_facet | Hassan, Tamer Zakaria, Marwa Fathy, Manar Arafa, Mohamed El Gebaly, Sherif Emam, Ahmed Abdel Wahab, Attia Shehab, Mohamed Salah, Hosam Malek, Mai El Gerby, Khaled |
author_sort | Hassan, Tamer |
collection | PubMed |
description | In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the β-gene. β° refers to the complete absence of production of β-globin on the affected allele. β(+) refers to alleles with some residual production of β-globin. The homozygous state results in severe anemia that necessitates regular blood transfusion. On the other hand, frequent blood transfusion can lead to iron overload resulting in progressive dysfunction of the heart, Liver as well as multiple endocrinopathies. We studied the impact of genotype on the development of disease complications in patients with β thalassemia. A Cross sectional study was carried on 73 patients with beta thalassemia. Genotyping was determined by DNA sequencing technique. Routine investigations as well as MRI liver and heart were performed to assess iron overload. We found that β(+)β(+) was the most common genotype in our patients followed by β°β° and β°β(+). Mean Liver iron content (LIC) was significantly higher in β°β° compared to β°β(+) and β(+)β(+) genotypes and mean cardiac T2* was significantly lower in β°β° compared to β°β(+) and β(+)β(+) genotypes. Hepatic complications, hepatitis C, cardiac complications and some endocrinopathies were significantly higher in patients with β°β° genotype compared to other genotypes which explain the role of the underlying genetic defect in thalassemia patients in development of disease complications. |
format | Online Article Text |
id | pubmed-6286337 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-62863372018-12-19 Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study Hassan, Tamer Zakaria, Marwa Fathy, Manar Arafa, Mohamed El Gebaly, Sherif Emam, Ahmed Abdel Wahab, Attia Shehab, Mohamed Salah, Hosam Malek, Mai El Gerby, Khaled Sci Rep Article In beta thalassemia, the degree of globin chain imbalance is determined by the nature of the mutation of the β-gene. β° refers to the complete absence of production of β-globin on the affected allele. β(+) refers to alleles with some residual production of β-globin. The homozygous state results in severe anemia that necessitates regular blood transfusion. On the other hand, frequent blood transfusion can lead to iron overload resulting in progressive dysfunction of the heart, Liver as well as multiple endocrinopathies. We studied the impact of genotype on the development of disease complications in patients with β thalassemia. A Cross sectional study was carried on 73 patients with beta thalassemia. Genotyping was determined by DNA sequencing technique. Routine investigations as well as MRI liver and heart were performed to assess iron overload. We found that β(+)β(+) was the most common genotype in our patients followed by β°β° and β°β(+). Mean Liver iron content (LIC) was significantly higher in β°β° compared to β°β(+) and β(+)β(+) genotypes and mean cardiac T2* was significantly lower in β°β° compared to β°β(+) and β(+)β(+) genotypes. Hepatic complications, hepatitis C, cardiac complications and some endocrinopathies were significantly higher in patients with β°β° genotype compared to other genotypes which explain the role of the underlying genetic defect in thalassemia patients in development of disease complications. Nature Publishing Group UK 2018-12-07 /pmc/articles/PMC6286337/ /pubmed/30531823 http://dx.doi.org/10.1038/s41598-018-36175-9 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article Hassan, Tamer Zakaria, Marwa Fathy, Manar Arafa, Mohamed El Gebaly, Sherif Emam, Ahmed Abdel Wahab, Attia Shehab, Mohamed Salah, Hosam Malek, Mai El Gerby, Khaled Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study |
title | Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study |
title_full | Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study |
title_fullStr | Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study |
title_full_unstemmed | Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study |
title_short | Association between genotype and disease complications in Egyptian patients with beta thalassemia: A Cross-sectional study |
title_sort | association between genotype and disease complications in egyptian patients with beta thalassemia: a cross-sectional study |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286337/ https://www.ncbi.nlm.nih.gov/pubmed/30531823 http://dx.doi.org/10.1038/s41598-018-36175-9 |
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