Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

Shimauti, Eliana LitsukoTomimatsu; Silva, Danilo Grünig Humberto; Souza, Eniuce Menezes de; Almeida, Eduardo Alves de; Leal, Francismar Prestes; Bonini-Domingos, Cláudia Regina

doi:10.1590/s1415-475738320140231

Cited by 6 publications

(2 citation statements)

References 56 publications

(61 reference statements)

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“…Additionally, the study researched Hb F levels associated with Xmn1 ′5 to G γ , as an indicator of disease severity [ 10 ]. To address this objective, the current study was extended to characterize the genotype frequency of the −158G γ (C⟶T) Xmn1 polymorphism [ 13 , 22 , 23 ]. The S (sickle) gene is a monogenic disorder created by a single A/T mutation in the sixth position of the β -chain; however, other clinical phenotypes are involved.…”

Section: Discussionmentioning

confidence: 99%

Molecular Analysis of Xmn1-Polymorphic Site ´5 to Gγ of the β-Globin Gene Cluster in a Saudi Population of Jazan Region in Correlation with Hb F Expression

Elderdery

Alsrhani

Alzahrani

et al. 2022

Evidence-Based Complementary and Alternative Medicine

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The southern part of Saudi Arabia has an ethnically diverse population where sickle-cell anemia (sickle cell disease) is common, but little is known about its βs haplotypes. The goal of the current study is to ascertain the prevalence of the Hb S gene with analysis of Xmn1 ′5 to Gγ haplotype among the Saudi population in the Jazan area. Initially recorded findings of (1) Hb S gene and (2) hematological parameters with Hb F levels were collected from 5990 participants. Then, the second series of 70 different patients with established sickling disease and 30 healthy individuals as a control group was recruited, in which the genotype of Xmn1 ′5 to Gγ-SNP was performed by PCR-RFLP. In the first series, the prevalence of Hb types was AA at 86.8% (N = 5198), AS at 12.4% (N = 745), and SS at 0.8% (N = 47). Of the second series, three patients (4.3%) were (±) Xmn1 ′5 to Gγ and 67 (95.7%) were (−/−) in Xmn1 ′5 to Gγ. In the controls, the (±) Xmn1 ′5 to Gγ was observed in only one individual (3.3%), aged 30. These findings possibly represent a new Saudi haplotype, [±] Xmn1 ′5 to Gγ. Our results demonstrate that most patients with SCD in Jazan have [−/−] Xmn1 with higher levels of Hb F and positive Xmn1 ′5 to Gγ normally associated with a low level of Hb F.

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Section: Discussionmentioning

confidence: 99%

Molecular Analysis of Xmn1-Polymorphic Site ´5 to Gγ of the β-Globin Gene Cluster in a Saudi Population of Jazan Region in Correlation with Hb F Expression

Elderdery

Alsrhani

Alzahrani

et al. 2022

Evidence-Based Complementary and Alternative Medicine

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“…Oxidative stress appears to contribute to the pathophysiology of SCD including hemolysis, infection, inflammation, painful episode and vaso-occlusive and reperfusion injury [3]. Many previous studies have described that the different ethnic groups of SCA patients with different haematological and clinical parameter suggested that b-globin gene cluster haplotype may be useful as a predictor of disease severity [14,25]. This study highlights that significantly (p \ 0.001) higher level of HbF were observed in SCA patients with Arab-Indian haplotype.…”

Section: Discussionmentioning

confidence: 99%

Influence of β-Globin Haplotypes on Oxidative Stress, Antioxidant Capacity and Inflammation in Sickle Cell Patients of Chhattisgarh

Bhagat

Thakur

2018

Ind J Clin Biochem

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The present study was conducted to investigate the frequency of b-globin gene haplotype and their influence on oxidative stress, antioxidant level and inflammation of sickle cell patient of Chhattisgarh. The serum levels of total antioxidant capacity, oxidative stress and inflammation were measured in hundred SCD patients. The mean serum CRP and MDA levels were significantly (p \ 0.0001) lower in Arab-Indian haplotype when compared with Bantu and other haplotype. However, the antioxidant capacity and HbF levels were significantly higher in Arab-Indian haplotype. These result indicate that b-globin gene haplotype have a role in modulating disease severity in SCD patients of Chhattisgarh.

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Genetic Variation and Sickle Cell Disease Severity

Kirkham,

Estepp,

Weiss

et al. 2023

JAMA Netw Open

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ImportanceSickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are influenced by additional genetic factors. Despite decades of research, the genetics of SCD remain poorly understood.ObjectiveTo assess all reported genetic modifiers of SCD, evaluate the design of associated studies, and provide guidelines for future analyses according to modern genetic study recommendations.Data SourcesPubMed, Web of Science, and Scopus were searched through May 16, 2023, identifying 5290 publications.Study SelectionAt least 2 reviewers identified 571 original, peer-reviewed English-language publications reporting genetic modifiers of human SCD phenotypes, wherein the outcome was not treatment response, and the comparison was not between SCD subtypes or including healthy controls.Data Extraction and SynthesisData relevant to all genetic modifiers of SCD were extracted, evaluated, and presented following STREGA and PRISMA guidelines. Weighted z score meta-analyses and pathway analyses were conducted.Main Outcomes and MeasuresOutcomes were aggregated into 25 categories, grouped as acute complications, chronic conditions, hematologic parameters or biomarkers, and general or mixed measures of SCD severity.ResultsThe 571 included studies reported on 29 670 unique individuals (50% ≤ 18 years of age) from 43 countries. Of the 17 757 extracted results (4890 significant) in 1552 genes, 3675 results met the study criteria for meta-analysis: reported phenotype and genotype, association size and direction, variability measure, sample size, and statistical test. Only 173 results for 62 associations could be cross-study combined. The remaining associations could not be aggregated because they were only reported once or methods (eg, study design, reporting practice) and genotype or phenotype definitions were insufficiently harmonized. Gene variants regulating fetal hemoglobin and α-thalassemia (important markers for SCD severity) were frequently identified: 19 single-nucleotide variants in BCL11A, HBS1L-MYB, and HBG2 were significantly associated with fetal hemoglobin (absolute value of Z = 4.00 to 20.66; P = 8.63 × 10−95 to 6.19 × 10−5), and α-thalassemia deletions were significantly associated with increased hemoglobin level and reduced risk of albuminuria, abnormal transcranial Doppler velocity, and stroke (absolute value of Z = 3.43 to 5.16; P = 2.42 × 10−7 to 6.00 × 10−4). However, other associations remain unconfirmed. Pathway analyses of significant genes highlighted the importance of cellular adhesion, inflammation, oxidative and toxic stress, and blood vessel regulation in SCD (23 of the top 25 Gene Ontology pathways involve these processes) and suggested future research areas.Conclusions and RelevanceThe findings of this comprehensive systematic review and meta-analysis of all published genetic modifiers of SCD indicated that implementation of standardized phenotypes, statistical methods, and reporting practices should accelerate discovery and validation of genetic modifiers and development of clinically actionable genetic profiles.

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Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

Cited by 6 publications

References 56 publications

Molecular Analysis of Xmn1-Polymorphic Site ´5 to Gγ of the β-Globin Gene Cluster in a Saudi Population of Jazan Region in Correlation with Hb F Expression

Molecular Analysis of Xmn1-Polymorphic Site ´5 to Gγ of the β-Globin Gene Cluster in a Saudi Population of Jazan Region in Correlation with Hb F Expression

Influence of β-Globin Haplotypes on Oxidative Stress, Antioxidant Capacity and Inflammation in Sickle Cell Patients of Chhattisgarh

Genetic Variation and Sickle Cell Disease Severity

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