ArticleInternational journal of hematology-oncology and stem cell research2015
A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population.
Article in International journal of hematology-oncology and stem cell research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.Molecular genetics & genomic medicine · 2022Article
- Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.Journal of personalized medicine · 2022Article
- The Effect of Xmn -1 Polymorphism and Coinheritance of Alpha Mutations on Age at First Blood Transfusion in Iranian Patients with Homozygote IVSI-5 Mutation.International journal of hematology-oncology and stem cell research · 2022Article
- Epigenetic Insights and Potential Modifiers as Therapeutic Targets inBiomolecules · 2021Review
- Haplotype Analysis in Carriers ofIranian journal of public health · 2020Article
- Molecular Characterization and Disease-Related Morbidities of β-Thalassemia Patients from the Northeastern Part of Iraq.International journal of general medicine · 2020Article
- Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq.BioMed research international · 2020Article
- Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of β-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD/PGS cases.Scientific reports · 2019Article
- Genotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis.Journal of blood medicine · 2018Article
- Genotype-Phenotype Correlations of β-Thalassemia Mutations in an Azerbaijani Population.Turkish journal of haematology : official journal of Turkish Society of Haematology · 2017Article
- β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint.Mediterranean journal of hematology and infectious diseases · 2017Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThalassemia syndromes are the most prevalent single gene disorders in Iran. This study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or Xmn1 SNP on disease phenotype in a large cohort of Iranian patients. SUBJECTS AND
methodsIn total, 433 patients were clinically classified into β-thalassemia major (TM) or intermedia (TI). Multiplex PCR, ARMS-PCR, RFLP-PCR and DNA sequencing were performed to identify both α- and β-globin gene mutations and Xmn1 polymorphism as well. All data were compared and analyzed by SPSS software in TM and TI groups, consequently.
resultsA total of 39 different β-globin mutations were identified. Among them, the most common were IVS IInt1 (40.33%) followed by IVS Int5 (9.56%), C30 (7.22%) and Fr8-9(7%). All patients were subjected to evaluate common α-globin gene deletions. The patients inherited concomitant mutations of α- and β-globin, showed no clinical modifications compared with those who had only β-globin mutation. The TI patients showed a significant increase in frequency of both heterozygous and homozygous form of the Xmn1 polymorphism. It was also found that β(0)/β(0) genotype patients, inherited the Xmn1 polymorphism required lesser blood transfusion.
conclusionNo significant differences were observed, on the severity of disease, between patient's inherited defective α- and β-globin genes and ones with just β-globin gene mutation. Taking the results of this research into account, Xmn1 polymorphism can be considered as an important genetic factor modulating the severity of disease.
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26865931PMC4748687W1821101056What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.