Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran

Aghajani, Faeghe; Mahdavi, Mohammad; Kosaryan, Mehrnoush; Mahdavi, Mehrdad; Hamidi, M. El; Jalali, Hossein

doi:10.1266/ggs.16-00005

Cited by 9 publications

(8 citation statements)

References 19 publications

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“…Roughly, 80-90% of the total hemoglobin (Hb) is sickle hemoglobin (HbS) in these patients ( 2 ). Some parts of the world including tropical regions like sub-Saharan Africa, India and the Middle East as well as the Northern provinces of Iran have the most incidence rate of the sickle cell disease ( 3 ).…”

Section: Introductionmentioning

confidence: 99%

Cardiac Structural and Functional Changes Evaluated by Transthoracic and Tissue Doppler Echocardiography in Adult Patients with Sickle Cell Disease

et al. 2017

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One of the most common genetic blood disorders, resulting from inherited red blood cell disorders, is sickle cell disease (SCD) which is responsible for high death in adult patients with left ventricular diastolic dysfunction and pulmonary hypertension. Tissue Doppler Echocardiography (TDE) and transthoracic echocardiography (TTE) are two useful tools to assess the risk of SCD. The present study was conducted to evaluate the cardiac functions and structure using TDE and TTE among adult patients suffering from sickle cell anemia compare to normal samples.Methods:The current study was performed on 30 SCD patients with a mean age 18-40 years and healthy cases at Mazandaran Heart Center, Iran. The left and right ventricular functions were assessed using M-mode, two-dimensional (2D), and tricuspid regurgitation jet velocity (TRJV) data and TDE derived myocardial velocity measurements in: SCD patients compared to control.Results:According to the findings, SCD group showed significantly higher E and E’ waves of left ventricle inflow compare to the control group (p<0.03 and p<0.01, respectively). No significant difference was observed for E/E’ ratio between two groups: case and control, but there was significant differences between the groups in E and E’ waves respectively equal to 8.55 and 8.14 cm/s. We obtained significant differences for peak early and late LV diastolic velocity between two groups and other indicators showed no significant differences.Conclusion:The evaluation of LV systolic and diastolic function via TDE did not indicate significant differences between SCD patients compared to healthy subjects. High E and E’ waves in these patients, could indicate progression towards cardiac disorders and pulmonary hypertension in future.

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Section: Introductionmentioning

confidence: 99%

Cardiac Structural and Functional Changes Evaluated by Transthoracic and Tissue Doppler Echocardiography in Adult Patients with Sickle Cell Disease

et al. 2017

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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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“…Otras eventuales manifestaciones clínicas son: la susceptibilidad a infecciones 30 , síndrome torácico agudo 31,32 , miocardiopatía 33 , infarto esplénico 34,35 . Los síntomas y complicaciones de la enfermedad pueden variar de leves a graves 12,[36][37][38] . La anemia puede ser de tipo normocítica-normocrómica cuando son homocigotos, o, de tipo microcítica mediante el análisis de hemoglobina reticulocitaria 39,40 .…”

Section: Clínica De La Enfermedadunclassified

“…Se han implementado otras técnicas tales como, la Cromatografía Líquida de Alto Rendimiento Desnaturalizante (DHPLC) 11,43,44 , así como la electroforesis en gel de agarosa a pH alcalino 4,36 . Sobre esta última, los autores Romero-Casas et al…”

Section: Pruebas Diagnósticas: Determinación De Hemoglobinaunclassified

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Anemia falciforme: una revisión sobre el genotipo de la enfermedad, haplotipos, diagnóstico y estudios asociados

Díaz-Matallana¹,

Márquez-Benítez²,

Martínez-Lozano³

et al. 2021

Rev. méd. Chile

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Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemiaSickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. Worldwide, various diagnostic tests have been developed that allow the appropriate approach to the affected patient. These include techniques for the determination of hemoglobin and the use of molecular markers, among others. There are new therapeutic alternatives to the use of hydroxyurea and L-glutamine, such as the use of gene therapy tools. The most recent experimental trials are exploring gene editing techniques.

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Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran

Cited by 9 publications

References 19 publications

Cardiac Structural and Functional Changes Evaluated by Transthoracic and Tissue Doppler Echocardiography in Adult Patients with Sickle Cell Disease

Cardiac Structural and Functional Changes Evaluated by Transthoracic and Tissue Doppler Echocardiography in Adult Patients with Sickle Cell Disease

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

Anemia falciforme: una revisión sobre el genotipo de la enfermedad, haplotipos, diagnóstico y estudios asociados

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