Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Beta Thalassemia in 31,734 Cases With Hbb Gene Mutations: Pathogenic and Structural Analysis of the Common Mutations; Iran As the Crossroads of the Middle East Publisher Pubmed



Mahdieh N1 ; Rabbani B1, 2
Authors
Show Affiliations
Authors Affiliations
  1. 1. Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Blood Reviews Published:2016


Abstract

Thalassemia is one of the most common single gene disorders worldwide. Nearly 80 to 90 million with minor beta thalassemia and 60–70 thousand affected infants are born annually worldwide. A comprehensive search on several databases including PubMed, InterScience, British Library Direct, and Science Direct was performed extracting papers about mutation detection and frequency of beta thalassemia. All papers reporting on the mutation frequency of beta thalassemia patients were selected to analyze the frequency of mutations in different regions and various ethnicities. Mutations of 31,734 individuals were identified. Twenty common mutations were selected for further analysis. Genotype–phenotype correlation, interactome, and in silico analyses of the mutations were performed using available bioinformatics tools. Secondary structure prediction was achieved for two common mutations with online tools. The mutations were also common among the countries neighboring Iran, which are responsible for 71% to 98% of mutations. Computational analyses could be used in addition to segregation and expression analysis to assess the extent of pathogenicity of the variant. The genetics of beta thalassemia in Iran is more extensively heterogeneous than in neighboring countries. Some common mutations have arisen historically from Iran and moved to other populations due to population migrations. Also, due to genetic drift, the frequencies of some mutations have increased in small populations. © 2016 Elsevier Ltd
Related Docs
View other Related Docs
1. In Silico Analysis of Novel Mutations in Maple Syrup Urine Disease Patients From Iran, Metabolic Brain Disease (2017)
2. Gjb2 Mutations in Deaf Population of Ilam (Western Iran): A Different Pattern of Mutation Distribution, European Archives of Oto-Rhino-Laryngology (2016)
3. A Mutational Hotspot in the Lamp2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of the C.877C>T Variant: A Descriptive Study, Cell Journal (2024)
4. Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of Cnksr2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (Mrxshg), American Journal of Medical Genetics, Part A (2025)
5. Genetic Homozygosity in a Diverse Population: An Experience of Long Qt Syndrome, International Journal of Cardiology (2020)
6. Genotype, Phenotype and in Silico Pathogenicity Analysis of Hexb Mutations: Panel Based Sequencing for Differential Diagnosis of Gangliosidosis, Clinical Neurology and Neurosurgery (2018)
7. Hbb Mutations and Hba2 Level: Escaping the Carrier Screening Programs, Clinical Case Reports (2021)
8. Identification of Six Novel Mutations in Iranian Patients With Maple Syrup Urine Disease and Their in Silico Analysis, Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis (2016)
Experts (# of related papers)
View all Related Experts
Ali Reza Tavasoli (7)
Mahmoudreza Ashrafi (4)
Other Related Docs
9. In Silico Analysis for Determination and Validation of Human Cd20 Antigen 3D Structure, International Journal of Peptide Research and Therapeutics (2019)
10. Whole Exome Sequencing Reveals a Xpnpep3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient, Iranian Biomedical Journal (2020)
11. Brown-Vialetto-Van Laere Syndrome and Fazio-Londe Syndrome: A Novel Mutation and in Silico Analyses, Journal of Clinical Neuroscience (2020)
12. A Bioinformatics Approach to Prioritize Single Nucleotide Polymorphisms in Tlrs Signaling Pathway Genes, International Journal of Molecular and Cellular Medicine (2016)
13. Optimized Protocol for Soluble Prokaryotic Expression, Purification and Structural Analysis of Human Placenta Specific-1(Plac1), Protein Expression and Purification (2017)
14. Functional Analysis of a Novel Splicing Mutation in the Mutase Gene of Two Unrelated Pedigrees, Cell Journal (2016)
15. In Silico Analysis for Determining the Deleterious Nonsynonymous Single Nucleotide Polymorphisms of Brca Genes, Molecular Biology Research Communications (2019)
16. Rpe65 and Retinal Dystrophy: Report of New and Recurrent Mutations, Journal of Gene Medicine (2020)
17. Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type Vi and Fanconi−Bickel Syndrome, Frontiers in Genetics (2021)
18. Ellis-Van Creveld Syndrome: Report of a Case and Recurrent Variant, Journal of Gene Medicine (2020)
19. Detection of Variants in Dystroglycanopathy-Associated Genes Through the Application of Targeted Whole-Exome Sequencing Analysis to a Large Cohort of Patients With Unexplained Limb-Girdle Muscle Weakness, Skeletal Muscle (2018)
20. Azoridactase Enzyme Engineering to Induce Structural Changes in the Active Site and Improve Its Affinity for Azo Dyes, Journal of Knowledge and Health in Basic Medical Sciences (2024)
21. Autozygosity Mapping of Methylmalonic Acidemia Associated Genes by Short Tandem Repeat Markers Facilitates the Identification of Five Novel Mutations in an Iranian Patient Cohort, Metabolic Brain Disease (2018)
22. Survival Analysis and Its Associated Factors of Beta Thalassemia Major in Hamadan Province, Iranian Journal of Medical Sciences (2015)
23. Catecholaminergic Polymorphic Ventricular Tachycardia (And Seizure) Caused by a Novel Homozygous Likely Pathogenic Variant in Casq2 Gene, Gene (2024)
24. Maple Syrup Urine Disease Mutation Spectrum in a Cohort of 40 Consanguineous Patients and Insilico Analysis of Novel Mutations, Metabolic Brain Disease (2019)
25. Identification of a Novel Stop Loss Mutation in P2rx2 Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss, Iranian Biomedical Journal (2021)
26. Identification of a Novel Frameshift Mutation in the Tecta Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss, Acta Medica Iranica (2021)
27. Variants in Gnptab, Gnptg and Nagpa Genes Are Associated With Stutterers, Gene (2018)
28. A Patient With Plack Syndrome With a Novel Splicing Mutation in Cast: The Evidence for a Loss-Of-Function Mechanism Through Mis-Splicing, Clinical and Experimental Dermatology (2023)
29. Identification of a Novel Homozygous Mutation of the Bckdhb Gene in an Iranian Patient With Maple Syrup Disease Using Next-Generation Sequencing, Human Gene (2023)
30. Gfap Variants Leading to Infantile Alexander Disease: Phenotype and Genotype Analysis of 135 Cases and Report of a De Novo Variant, Clinical Neurology and Neurosurgery (2021)
31. Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type Iiib in a Patient, Iranian Biomedical Journal (2020)
32. Molecular Characterization of Qdpr Gene in Iranian Families With Bh4 Deficiency: Reporting Novel and Recurrent Mutations, JIMD Reports (2015)
33. Genetic Analysis of a Cohort of 275 Patients With Hyper-Ige Syndromes And/Or Chronic Mucocutaneous Candidiasis, Journal of Clinical Immunology (2021)
34. Crb1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum, Iranian Biomedical Journal (2019)
35. Mutational Screening of the Nr5a1 in Azoospermia, Andrologia (2015)
36. Gjb2 Mutations Causing Autosomal Recessive Non-Syndromic Hearing Loss (Arnshl) in Two Iranian Populations: Report of Two Novel Variants, International Journal of Pediatric Otorhinolaryngology (2018)
37. Mutation in Twinkle in a Large Iranian Family With Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change, Archives of Iranian Medicine (2016)
38. The Importance of the Non-Active Site and Non-Periodical Structure Located Histidine Residue Respect to the Structure and Function of Exo-Inulinase, International Journal of Biological Macromolecules (2017)
39. Burden of Hemoglobinopathies (Thalassemia, Sickle Cell Disorders and G6pd Deficiency) in Iran, 1990–2010: Findings From the Global Burden of Disease Study 2010, Archives of Iranian Medicine (2015)
40. Introducing a New Model of Sweet Taste Receptor, a Class C G-Protein Coupled Receptor (C Gpcr), Cell Biochemistry and Biophysics (2019)
41. Identification of Novel Variants in Iranian Consanguineous Pedigrees With Nonsyndromic Hearing Loss by Next-Generation Sequencing, Journal of Clinical Laboratory Analysis (2020)
42. A Novel Mutation in the Pax3 Gene Causes Waardenburg Syndrome Type I in an Iranian Family, International Journal of Pediatric Otorhinolaryngology (2015)
43. Novel Abcd1 Gene Mutations in Iranian Pedigrees With X-Linked Adrenoleukodystrophy, Journal of Pediatric Endocrinology and Metabolism (2019)
44. Novel Mutation C.7348C>T in Nf1 Gene Identified by Whole-Exome Sequencing in Patient With Overlapping Clinical Symptoms of Neurofibromatosis Type 1 and Bannayan–Riley–Ruvalcaba Syndrome, Cytology and Genetics (2020)
45. Identifying the Potential Mediators of Pathological Complete Response to Neoadjuvant Chemotherapy Among Tacr1 Gene Polymorphisms: A Study on Breast Cancer Patients, Breast Cancer Research and Treatment (2025)
46. The Effects of Group Play Therapy on Self-Concept Among 7 to 11 Year-Old Children Suffering From Thalassemia Major, Iranian Red Crescent Medical Journal (2016)
47. Autosomal Dominant Deficiency of the Interleukin-17F in Recurrent Aphthous Stomatitis: Possible Novel Mutation in a New Entity, Gene (2018)
48. In Silico Analysis for Determination and Validation of Iron-Regulated Protein From Escherichia Coli, International Journal of Peptide Research and Therapeutics (2019)
49. Functional Characterization and Development of Novel Human Kinase Insert Domain Receptor Chimeric Antigen Receptor T-Cells for Immunotherapy of Non-Small Cell Lung Cancer, European Journal of Pharmaceutical Sciences (2023)
50. A Novel Compound Heterozygote Mutation in the Arsb Gene in a Patient With Maroteaux-Lamy Syndrome and Its Insilico Evaluation, Meta Gene (2018)