Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

Murad, Hossam; Moassas, Faten; Jarjour, Rami A.; Mukhalalaty, Yasser; Al‐Achkar, Walid

doi:10.3109/03630269.2014.978455

Cited by 19 publications

(15 citation statements)

References 31 publications

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“…mutations is not identical throughout all regions in Syria. There were previously published studies on the spectrum of β-globin gene mutations in the Syrian population, the authors did not indicate the distribution of the mutations to different parts of the country because the number of studied alleles was insufficient for mapping the distribution of mutations along the country [9,10,16,17].…”

Section: Resultsmentioning

confidence: 99%

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Geographical distribution of β-globin gene mutations in Syria

et al. 2018

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Section: Resultsmentioning

confidence: 99%

“…The eight most common β-globin gene defects in previous studies [9,10] were examined by the amplification refractory mutations system-polymerase chain reaction (ARMS-PCR) technique [11]. ARMS primers were selected from Old [12].…”

Section: Amplification Refractory Mutation Systempolymerase Chain Reamentioning

confidence: 99%

Geographical distribution of β-globin gene mutations in Syria

et al. 2018

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“…The aim of retinopathy screening is to detect PSR and consider treatment for example photocoagulation before complications, such as VH or TRD or retinal vascular occlusions with visual loss occur. In terms of diagnostic screening, DNA screening in newborns at risk, for example with a positive family history of SCD, has been suggested [38,39].…”

Section: Screeningmentioning

confidence: 99%

Sickle cell retinopathy. A focused review

Elsayed

Mura

Dhibi

et al. 2019

Graefes Arch Clin Exp Ophthalmol

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Purpose To provide a focused review of sickle cell retinopathy in the light of recent advances in the pathogenesis, multimodal retinal imaging, management of the condition, and migration trends, which may lead to increased prevalence of the condition in the Western world. Methods Non-systematic focused literature review. Results Sickle retinopathy results from aggregation of abnormal hemoglobin in the red blood cells in the retinal microcirculation, leading to reduced deformability of the red blood cells, stagnant blood flow in the retinal precapillary arterioles, thrombosis, and ischemia. This may be precipitated by hypoxia, acidosis, and hyperosmolarity. Sickle retinopathy may result in sight threatening complications, such as paracentral middle maculopathy or sequelae of proliferative retinopathy, such as vitreous hemorrhage and retinal detachment. New imaging modalities, such as wide-field imaging and optical coherence tomography angiography, have revealed the microstructural features of sickle retinopathy, enabling earlier diagnosis. The vascular growth factor ANGPTL-4 has recently been identified as a potential mediator of progression to proliferative retinopathy and may represent a possible therapeutic target. Laser therapy should be considered for proliferative retinopathy in order to prevent visual loss; however, the evidence is not very strong. With recent development of wide-field imaging, targeted laser to ischemic retina may prove to be beneficial. Exact control of intraoperative intraocular pressure, including valved trocar vitrectomy systems, may improve the outcomes of vitreoretinal surgery for complications, such as vitreous hemorrhage and retinal detachment. Stem cell transplantation and gene therapy are potentially curative treatments, which may prevent retinopathy. Conclusions There is lack of evidence regarding the optimal management of sickle retinopathy. Further study is needed to determine if recent progress in the understanding of the pathophysiology and diagnosis of sickle retinopathy may translate into improved management and outcome.

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“…It is believed that codon 39 (C> T) is of Roman origin, and has a high prevalence in Sardinia, mainland Italy, Spain, Portugal and Tunisia (19). Different studies also found this mutation to be frequent in Venezuela (18), Northern Greece (20), Syria (21), and confirmed it in Tunisia (22) and Italy (23).…”

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confidence: 76%

“…The next most common 0 thalassemia mutation in our cohort, IVS-I-1, shows a restricted geographical distribution in Eastern Mediterranean countries (Syria, Lebanon, Jordan, Palestine and Egypt) (21).…”

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confidence: 83%

Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease

Martino

Alencar

Loureiro

et al. 2019

Preprint

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22Background: The diagnosis of sickle cell disease (SCD) is made by hemoglobin assays such 23 as high-performance liquid chromatography (HPLC), isoelectric focusing and cellulose 24 acetate or citrate agar electrophoresis. These assays are easy to perform and used in large-25 scale newborn screening in many countries. These tests however may not easily differentiate 26 Sβ 0 thalassemia from SS or identify other hemoglobin variants, and in this case, hemoglobin 27 (HBB) gene sequencing may be necessary. Objectives: To develop a high throughput DNA 28 based confirmatory assay for SCD and to detect mutations in the HBB gene. Methods: We 29 developed an automated pyrosequencing technique (PyS) based on QIAGEN technology 30 (Hilden, Germany) to detect homozygous or heterozygous hemoglobin S mutations as well as 31 hemoglobin C mutations. The technique was tested on 2,748 samples from patients enrolled in 32 a multi-center SCD cohort in Brazil. Patients were previously tested using HPLC to diagnose 33 SCD as part of routine clinical care. Any subjects with discrepant results between HPLC and 34 PyS or with heterozygous hemoglobin S detected had Sanger sequencing of the HBB gene.35 Results: We identified 168 samples with discrepant results between HPLC and PyS and 100 36 with concordant HPLC and PyS= heterozygous S, which would suggest Sβ-thalassemia or 37 other hemoglobin S variants. The PyS assay correctly identified 1906 (98.7%) of the 1930 38 HbSS and 628 (98.7%) of the 636 HbSC samples. Of the 179 remaining samples, PyS 39 correctly indicated S heterozygosis in 165 (92.2%). Of the 165 heterozygous S samples 40 confirmed by Sanger as consistent with Sβ thalassemia genotype, 84 samples were classified 41 as Sβ 0 thalassemia and 81 as Sβ + thalassemia. The most frequent beta thalassemia mutations 42 of Sβ 0 and Sβ + were HBB: c.118C>T (Gln40Stop) and HBB c.92 + 6T> C, respectively.43Discussion: The PyS proved to be satisfactory for large-scale confirmatory testing of 44 hemoglobin mutation. Moreover, with this study we were able to describe the most common 45 3 β + and β 0 mutations in SCD patients with Sβ-thalassemia in a large multi-institutional SCD 46 cohort in Brazil. 47

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Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

Cited by 19 publications

References 31 publications

Geographical distribution of β-globin gene mutations in Syria

Geographical distribution of β-globin gene mutations in Syria

Sickle cell retinopathy. A focused review

Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease

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