Genotype – Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population

Asadov, Chingiz; Abdulalimov, Eldar; Mammadova, Tahira; Gafarova, Surmaya; Guliyeva, Yegana; Aliyeva, Gunay

doi:10.4274/tjh.2016.0427

Cited by 13 publications

(7 citation statements)

References 19 publications

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“…It was also found that the in the (LCR - HS2) β- had an effect on the hemoglobin F ratio, as it increases number of patients, with 99% confidence. This finding was consistent with Asadov et al ( Asadov et al, 2017 ).…”

Section: Discussionsupporting

confidence: 94%

Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients

Alafari

Alenzi

2020

Saudi Journal of Biological Sciences

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Introduction Beta-thalassemias are a group of inherited blood disorders caused by reduced or absent synthesis of beta chain of hemoglobin resulting in variable phenotypes ranging from clinically asymptomatic individuals to severe anemia symptoms. The objective of this study is to screen for the whole beta gene globulin and the LCR region and its clinical relevance in β-Thalassemia patients. Methods In this study, we collected 140 blood patients' samples with beta-thalassemia from different areas of Saudi Arabia. DNA was then extracted then the molecular scanning for the whole β-globin gene and the Locus control region (β-LCR) for patients' samples, was run using PCR. Results Sixty one mutations found in this study, including 22 new mutations not recorded in the database before. These deletions including: (*C-1960-1961 ca/-- del in hbb5) and (*c-519C A het in hbb9). Interestingly, the highest percentage in gene deletion occurred in exon 03A by ∼33% of the samples, while the highest percentage in gene addition of the gene occurred in exon 03B by ∼25%. Conclusion This study was unique to show several new mutations that would help in diagnosis and treatment. These results should be taken further to set up better management strategies to improve outcomes.

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Section: Discussionsupporting

confidence: 94%

Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients

Alafari

Alenzi

2020

Saudi Journal of Biological Sciences

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“…Beta (zero)-thalassemia apparently has a more severe clinical presentation, causing thalassemia major in homozygous and compound heterozygous states, whereas beta(+)-thalassemia are observed as milder cases of thalassemia intermedia. 11 …”

Section: Discussionmentioning

confidence: 99%

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

Traivaree

Monsereenusorn

Rujkijyanont

et al. 2018

JBM

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IntroductionBeta-thalassemia is a group of inherited hemolytic anemias and one of the most common genetic disorders in Thailand. The clinical spectrum of beta-thalassemia disease ranges from mild to severe clinical symptoms including mild beta-thalassemia intermedia (TI) and severe beta-thalassemia major (TM).ObjectiveThis study aimed to determine the correlation between beta-globin gene (HBB) mutations and their phenotypic manifestations by evaluating patients’ clinical characteristics, transfusion requirements, growth and hematologic parameters, and hemoglobin typing among pediatric patients treated at Phramongkutklao Hospital.Materials and methodsSeventy beta-thalassemia patients, including 63 with beta-thalassemia/hemoglobin E (HbE) and 7 with either homozygous or compound heterozygous beta-thalassemia, were enrolled in this study. Their clinical presentation, growth parameters and laboratory findings were reviewed and analyzed. The mean follow-up time was 10.52±5.62 years. Mutation analysis in each individual was performed using multiplex amplification refractory mutation system (M-ARMS), direct DNA sequencing of beta-globin gene and gap PCR for 3.4 kb deletion detection.ResultsAll 7 homozygous and compound heterozygous beta-thalassemia patients were classified in TM. Among 63 patients with beta-thalassemia/HbE, 58 were classified in TM and 4 were classified in TI. Mean age at diagnosis was 0.8±0.49 years for homozygous or compound heterozygous beta-thalassemia and 3.43±3.5 years for beta-thalassemia/HbE. The most common HBB mutation was HBB:c.126_129delCTTT [codon 41/42 (-TCTT)] found in 34 alleles (48.6%). The height for age was also lower in homozygous beta-thalassemia patients (<3rd percentile) compared to compound heterozygous beta-thalassemia patients (25–50th percentile).ConclusionThis study revealed a genotype–phenotype correlation of the most prevalent beta-thalassemia in Thai children using diagnostic capacity in genotypic analysis of HBB mutation. Our findings can provide a better prediction of clinical manifestation and severity by early identification of the type of the HBB mutations.

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“…On the other hand, point mutations occurring on the α-globin genes are associated with more severe α-thalassemia phenotypes compared to deletional mutations. Thus, determination of the genotype is essential for prediction of the clinical severity of thalassemia [42][43][44].…”

Section: Molecular Diagnosismentioning

confidence: 99%

Thalassemia in the laboratory: pearls, pitfalls, and promises

Aliyeva¹,

Asadov²,

Mammadova³

et al. 2018

Clinical Chemistry and Laboratory Medicine (CCLM)

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Thalassemia is one of the most common hereditary disorders of the developing world, and it is associated with severe anemia and transfusion dependence. The global health burden of thalassemia has increased as a result of human mobility and migration in recent years. Depending on inherited mutations, thalassemia patients exhibit distorted hemoglobin (Hb) patterns and deviated red cell indices, both of which can be used to support identification by diagnostic tools. Diagnostic approaches vary depending on the target population and the aim of the testing. Current methods, which are based on Hb patterns, are used for first-line screening, whereas molecular testing is needed for conformation of the results and for prenatal and preimplantation genetic diagnosis. In the present paper, we review the diagnostic parameters, pitfalls, interfering factors, and methods; currently available best-practice guidelines; quality assurance and standardization of the procedures; and promising laboratory technologies for the future of thalassemia diagnosis.

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Genotype – Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population

Cited by 13 publications

References 19 publications

Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients

Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

Thalassemia in the laboratory: pearls, pitfalls, and promises

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Genotype – Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population

Cited by 13 publications

References 19 publications

Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients

Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients

Genotype&ndash;phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

Thalassemia in the laboratory: pearls, pitfalls, and promises

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Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis