Prenatal Diagnosis of Hemoglobinopathies in Hacettepe University, Turkey

Beksac, Mehmet Sinan; Gümrük, Fatma; Gürgey, Aytemiz; Çakar, Nur; Mümüşoğlu, Sezcan; Özyüncü, Özgür; Altay, Çiğdem

doi:10.3109/08880018.2010.507690

Cited by 9 publications

(3 citation statements)

References 7 publications

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“…The most frequently observed mutation for β-thal in Turkey with a rate of about 40.0% is reported as HBB : c.93-21G>A [ 2 ]. In our study, this mutation has the highest frequency of 26.08%, lower than the average for Turkey and different to a range of regions in Turkey [ 2 , 7 - 9 ]. The frequency of HBB : c.93-21G>A in β-thal mutations exceeds 50.0% in Central Anatolia, but falls to 25.0% in East and Southeast Anatolia [ 2 , 10 , 11 ].…”

Section: Discussioncontrasting

confidence: 53%

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

Uludağ

Uysal

Ertekin

et al. 2016

Balkan Journal of Medical Genetics

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The prevalence of β-thalassemia (β-thal) carriers in Turkey varies according to region but in general it is 2.0%. Çanakkale is a city in the Aegean region of Turkey but no study about β-thal frequency in Çanakkale has been published to date. In this study, we aimed to investigate the frequency of β-thal mutations in this province. A total of 4452 couples (8904 individuals) applied for premarital thalassemia scans at the Çanakkale State Health Directorate Laboratory between January 2008 and June 2012 and scanning was done with high performance liquid chromatography (HPLC). Of 125 β-thal carriers seen at the Medical Genetics Clinic, Çanakkale Onsekiz Mart University, Çanakkale, Turkey, for genetic counseling, 46 participated in the study. The remaining 79 patients could not be reached. The prevalence for β-thal carriers in Çanakkale was identified as 1.4% (125/8904). One couple were both β-thal carriers. β-Globin gene analysis of 46 carriers found the total frequency of the three most common mutations was 45.6%. These mutations were found to be HBB: c.93-21G>A [IVS-I-110 (G>A)], 26.08% (12/46); HBB: c.17_ 18delCT [codon 5 (‒CT)], 10.85% (5/46); HBB: c.20delA [codon 6 (‒A)] 8.69% (4/46). This is the first report on the frequency and mutation profiles of β-thal for Çanakkale. The incidence of β-thal carriers in Çanakkale is below the average for Turkey. The most frequently observed mutation profile and rate of β-thal in our region is different from the other regions of Turkey.

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Section: Discussioncontrasting

confidence: 53%

“…The same mutation was reported as 49.02% in the Central Anatolia region by Beksaç et al . [ 9 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

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

Uludağ

Uysal

Ertekin

et al. 2016

Balkan Journal of Medical Genetics

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“…In our study, the indications were similar but the most common indication was hereditary hemoglobinopathies (233/656, 35.5%), as seen in Table 2. Our unusual distribution of CVS indications was most probably a result of the specialty of our institution, which is a referral center for hereditary disorders and rare diseases (Fadiloglu et al, 2018a;Sinan Beksaç et al, 2011). The other reason is the Institutional policy that encourages expert surgeons to be involved in risky procedures and leaves standard procedures for training purposes.…”

Section: Resultsmentioning

confidence: 99%

Chorionic villus sampling experience of a reference perinatal medicine center

Beksaç

Ünal

Fadıloğlu

et al. 2019

Annals of Human Genetics

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Aim To share the chorionic villus sampling (CVS) experience of a single surgeon in our institution. Methods This retrospective study consists of CVS cases performed between 2000 and 2018. A total of 66 types of indications were classified under two main categories, the screening group (SG) and the inherited disease group (IDG). The SG and IDG were compared in terms of clinical characteristics of the patients, Beksaç obstetrics index (BOI), timing of CVS in terms of gestational week, and complications and termination of pregnancy (TOP) rate. Results CVS was performed at 656 women, 69 and 587 of whom were included in the SG and IDG, respectively. CVS indications of the SG were determined as advanced maternal age, high risk in combined test, fetal anomaly suspicion in ultrasonography, and increased nuchal translucency in 23, 23, 14 and 9 cases, respectively. On the other hand, CVS indications of the IDG were hereditary disorders related to hematological, muscular, and metabolic systems for 233, 179, and 116 cases, respectively. Furthermore, 32 patients had a single‐gene disorder and 14 had a neurodegenerative disease. According to the results of CVS, 359 fetuses were found to be normal (54.73%), while 205 (31.25%) and 92 (14.02%) fetuses were found to be disorder‐positive or carriers, respectively. Two hundred pregnant women accepted TOP. Eight (1.2%) pregnancies ended with abortion after CVS. Statistically significant differences were observed in BOI and TOP rate between SG and IDG (p: 0.042 and 0.013). Conclusion Hereditary disorders were the most common CVS indications and the acceptance of TOP was significantly higher in this group.

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Development of gene editing strategies for human β-globin (HBB) gene mutations

Kalkan

Kala

Yuce

et al. 2020

Gene

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Recent developments in gene editing technology have enabled scientists to modify DNA sequence by using engineered endonucleases. These gene editing tools are promising candidates for clinical applications, especially for treatment of inherited disorders like sickle cell disease (SCD). SCD is caused by a point mutation in human β -globin gene (HBB). Clinical strategies have demonstrated substantial success, however there is not any permanent cure for SCD available. CRISPR/Cas9 platform uses a single endonuclease and a single guide RNA (gRNA) to induce sequence-specific DNA double strand break (DSB). When this accompanies a repair template, it allows repairing the mutated gene. In this study, it was aimed to target HBB gene via CRISPR/Cas9 genome editing tool to introduce nucleotide alterations for efficient genome editing and correction of point mutations causing SCD in .

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Prenatal Diagnosis of Hemoglobinopathies in Hacettepe University, Turkey

Cited by 9 publications

References 7 publications

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

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

Chorionic villus sampling experience of a reference perinatal medicine center

Development of gene editing strategies for human β-globin (HBB) gene mutations

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