Extensive Polymorphisms in Saudi Beta Thalassaemia Patients

Warsy, Arjumand S.; El‐Hazmi, Mohsen A. F.; Momin, Abdul Kareem Al; Al-Hazmi, Ali; Aleem, Aamer

doi:10.13005/bbra/1103

Cited by 6 publications

(4 citation statements)

References 30 publications

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“…Among the novel variants identified majority were within intronic2 region and this assumes significance as mutations in introns are known to have a significant effect on the gene expression of the β-globin gene, RNA splicing and mRNA stability (13,14). Similarly, several novel mutations identified in this study were located in the non-coding regions of the HBB gene.…”

Section: Discussionmentioning

confidence: 57%

Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq

Al-Musawi¹,

Aziz²,

Khudair³

et al. 2022

Biomedicine

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Introduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients. Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for mutations using sequence analysis tools. Results: Molecular analysis revealed several mutations in the HBB gene including translocation, deletion and substitution mutations in the population tested positive for the beta -thalassemia trait. Conclusion: Thalassemia major is a serious concern in southern Iraq and therefore this study emphasizes a need for complete mutation profiling of the beta -globin gene as a strategy for screening of carriers within the population. Such examinations could be useful in pre-marital genetic counseling and for undertaking prevention and treatment measures.

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Section: Discussionmentioning

confidence: 57%

Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq

Al-Musawi¹,

Aziz²,

Khudair³

et al. 2022

Biomedicine

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“…The beta-globin gene is located on chromosome 11 and consists of three exons separated by two interconnected sequences of introns known as “IVS”. Mutations at introns (IVS-1, IVS- 2) may have a significant effect on the gene expression of the beta-globin gene (Warsy et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia

Alenzi

Alshaya

2019

Saudi Journal of Biological Sciences

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Sickle cell anemia (SCA) is one of the most common hematologic diseases affecting humans. Detection of a single base pair mutation at 6th codon of β-globin gene is important for the diagnosis of SCA. The aim was to study the nucleotide sequences and the molecular survey of β-globin gene in Saudi patients.Blood samples from 77 unrelated SC patients were obtained from the KKUH, between 2015 and 2017. In this study, DNA was extracted then PCR was performed. Twelve overlapping fragments covering β-globin gene, have been generated by PCR.A total of 47 alterations have been recognized in β-globin gene. These alterations composed of: deletions, insertion or substitutions as follows:- one mutation identified on the 1st segment; three alterations on 2nd fragment; two alterations on 3rd segment; seven alterations on 4th segment; three substitution on 5th fragment; two changes on 6th fragment; five alterations on 7th fragment; seven substitution changes on 8th fragment; two heterozygous substitution changes on 9th fragment; three changes on 10th fragment and eight substitution changes on 11th fragment, and four changes on 12th fragment.SCA had profound negative effects on many organs, causing many complications. The results should be taken further to set up management strategies to improve outcomes.

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“…The HBB gene belongs to the group of β-globin genes that encodes the β-globin polypeptide. It is set on the short arm of chromosome eleven and contains two introns and three exons [2]. Molecular defects in human HBB will cause structural defects that cause abnormalities in hemoglobin, appreciate HbS, HbC and HbD, or it can cause the absence or reduced synthesis of β-globin chains that cause β-thalassemia [3].…”

Section: Introductionmentioning

confidence: 99%

Bioinformatic Analysis of Insertion, Deletion, and Substitution Mutations in the Human <i>β</i>-Globin Gene

Cárdenas¹

2021

CMB

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Beta-thalassemia is delineated as a bunch of heritable blood disorders characterized by abnormalities within the synthesis of beta chains of hemoglobin. Most defects in hemoglobin arise directly from mutations in the structure of the β-globin sequence (HBB). Recent advances in computational tools have made it possible to study the relationship between genotype and phenotype in many diseases, including β-thalassemia. Due to the high prevalence of β-thalassemia, these analyses have helped to know the molecular basis in a better way. In this direction, a related database, called HbVar, was developed in 2001 by a collective academic effort to provide quality and up-to-date information on genomic variations that lead to hemoglobinopathies and thalassemia. Within present study, the aim was to investigate insertion, substitution, and deletion mutations in HBB collected from HbVar and their effects using the in-silico approach. In this comparative analysis, three sequences, one wild-type and two mutated HBB sequences were studied in the South American region. It was determined that the Brazilian nd-HPFH mutated sequence presents the formation of a beta chain in the protein structure, not being able to align or overlap in the wild-type, which results in the alteration of the function of the protein, and therefore the development of Thalassemia disease.

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Extensive Polymorphisms in Saudi Beta Thalassaemia Patients

Cited by 6 publications

References 30 publications

Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq

Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq

Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia

Bioinformatic Analysis of Insertion, Deletion, and Substitution Mutations in the Human <i>β</i>-Globin Gene

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Extensive Polymorphisms in Saudi Beta Thalassaemia Patients

Cited by 6 publications

References 30 publications

Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq

Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq

Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia

Bioinformatic Analysis of Insertion, Deletion, and Substitution Mutations in the Human &lt;i&gt;β&lt;/i&gt;-Globin Gene

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Bioinformatic Analysis of Insertion, Deletion, and Substitution Mutations in the Human <i>β</i>-Globin Gene