Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey

Uludağ, Ahmet; Uysal, Ahmet; Ertekin, YH; Tekïn, Murat; Kütük, B; Sılan, Fatma; Özdemir, Öztürk

doi:10.1515/bjmg-2016-0004

Cited by 9 publications

(8 citation statements)

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“…When all applications were considered, the prevalence of β-TT was 1.98% (Table 2). The prevalence of β-thalassemia was reported to be 1.4% (125/8904) and the prevalence of sickle cell anemia was 0.06% (5/8904) in the PMS in our neighboring city, Canakkale (13). Moreover, in a study performed in Kocaeli province, also in the Marmara region, the prevalence of β-TT was 0.89% and sickle cell trait was 0.05% (14) some screening programs performed in Turkey, there were significant regional differences.…”

Section: Discussionmentioning

confidence: 90%

A Different Look at Premarital Hemoglobinopathy Screening in Primary Care

Güzel

Çelikkol

Mekık³

2021

Konuralp Tıp Dergisi

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Objective: Despite the high prevalence of hemoglobinopathies (HBP), the most common single-gene disorders in Turkey, data in some regions are lacking. We aimed to evaluate the effectiveness of the hemoglobinopathy premarital screening program (PMS) and to investigate the contribution of efficient use of complete blood count (CBC) parameters on cost-effectivity. Methods: HMP diagnosed 49171 subjects in 4 years and CBC of subjects with HMP in a year were evaluated retrospectively. Results: The total incidence rate of HBP was 3.41%, β-thalassemia trait (β-TT) was 1.98%, HMP incidence in the PMS group was 2.43%, β-TT was 1.08%. Moreover, HbF, HbD, HbC, HbS, HbE and HbJ were detected with the incidences of 0.49%, 0.14%, 0.05%, 0.04%, 0.007% and 0.009%, respectively. RDW/MCH ratio compared to other indices was the most successful for both sexes in diagnostic efficiency of HBP (AUC: male:0.922female:0.961) and β-TT (AUC: male;0.928 -female:0.961). Conclusions: PMS was found to be an effective application program in HMP screening. RDW/MCH ratio was the most useful and easy parameter in detecting HBP and β-TT in PMS and in terms of reducing unnecessary test requests and cost-effectiveness in public health screenings.

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Section: Discussionmentioning

confidence: 90%

A Different Look at Premarital Hemoglobinopathy Screening in Primary Care

Güzel

Çelikkol

Mekık³

2021

Konuralp Tıp Dergisi

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“…With the testing algorithm described, it was possible to determine the spectrum of Sβ thalassemia mutations and their combinations in a Brazilian SCD population. It is important to determine the correct mutations for genetic counseling and to identify patients potentially eligible for new drugs or gene therapy trials that may be available for targeted populations [35].…”

Section: Discussionmentioning

confidence: 99%

Use of an automated pyrosequencing technique for confirmation of sickle cell disease

et al. 2019

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BackgroundThe diagnosis of sickle cell disease (SCD) is made by hemoglobin assays such as high-performance liquid chromatography (HPLC), isoelectric focusing and cellulose acetate or citrate agar electrophoresis. These assays are easy to perform and used in large-scale newborn screening in many countries. These tests however may not easily differentiate Sβ0 thalassemia from SS or identify other hemoglobin variants, and in this case, hemoglobin (HBB) gene sequencing may be necessary.ObjectivesTo develop a high throughput DNA based confirmatory assay for SCD and to detect mutations in the HBB geneMethodsWe developed an automated pyrosequencing technique (PyS) based on QIAGEN technology (Hilden, Germany) to detect homozygous or heterozygous hemoglobin S mutations as well as hemoglobin C mutations. The technique was tested on 2,748 samples from patients enrolled in a multi-center SCD cohort in Brazil. Patients were previously tested using HPLC to diagnose SCD as part of routine clinical care. Any subjects with discrepant results between HPLC and PyS or with heterozygous hemoglobin S detected had Sanger sequencing of the HBB gene.ResultsWe identified 168 samples with discrepant results between HPLC and PyS and 100 with concordant PyS = heterozygous S and HPLC, which would suggest SB-thalassemia or other heterozygous S variants. The PyS assay correctly identified 1906 (98.7%) of the 1930 HbSS and 628 (98.7%) of the 636 HbSC samples. Of the 179 remaining samples, PyS correctly indicated S heterozygosis in 165 (92.2%). Of the 165 heterozygous S samples confirmed by Sanger as consistent with Sβ thalassemia genotype, 84 samples were classified as Sβ0 thalassemia and 81 as Sβ+ thalassemia. The most frequent beta thalassemia mutations of Sβ0 and Sβ+ were HBB: c.118C>T (Gln40Stop) and HBB c.92 + 6T> C, respectively.DiscussionThe PyS proved to be satisfactory for large-scale confirmatory testing of hemoglobin mutation. Moreover, with this study we were able to describe the most common β+ and β0 mutations in SCD patients with Sβ-thalassemia in a large multi-institutional SCD cohort in Brazil.

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“…It is important to determine the correct mutations for genetic counseling and to identify patients potentially eligible for new drugs or gene therapy trials that may be available for targeted populations. (35).…”

mentioning

confidence: 99%

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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Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey

Cited by 9 publications

References 12 publications

A Different Look at Premarital Hemoglobinopathy Screening in Primary Care

A Different Look at Premarital Hemoglobinopathy Screening in Primary Care

Use of an automated pyrosequencing technique for confirmation of sickle cell disease

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

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