Beta-globin gene mutations in children with beta-thalassemia major from Sanliurfa province, Turkey

Ayçicek, Ali; Koç, Ahmet; Özdemir, Zeynep Canan; Bilinç, Hasan; Koçyiğit, Abdürrahim; Dilmeç, Fuat

doi:10.5152/tjh.2011.86

Cited by 8 publications

(6 citation statements)

References 8 publications

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“…The wide molecular heterogeneity of Turkish thalassemic subjects has been confirmed by this registry. The most common seven mutations accounted for less than 80% of all thalassemia alleles, consistent with previous reports from Turkey [ 15 , 16 , 17 , 18 , 19 , 20 ]. The IVS-I-110(G->A) substitution was the most common defect with a frequency of 47% within all b-thalassemia alleles in the cohort.…”

Section: Discussionsupporting

confidence: 91%

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention

Aydınok

Oymak

Atabay

et al. 2018

Tjh

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Objective:The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey.Materials and Methods:A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%).Results:The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all β-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged <10 years. Of the thalassemia major patients, 5.8% had match-related hemopoietic stem cell transplantation with a success rate of 77%. Cardiac disease was detected as a major cause of death and did not show a decreasing trend in 5-year cohorts since 1999.Conclusion:While the HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, being at lowest 34 cases per year. This program failure resulted from a lack of premarital screening in the majority of cases. Additional problems were unawareness of the risk and misinformation of the at-risk couples. In addition, prenatal diagnosis was either not offered to or was not accepted by the at-risk families. This study indicated that a continuous effort is needed for optimizing the management of thalassemia and the development of strategies is essential for further achievements in the HCP in Turkey.

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Section: Discussionsupporting

confidence: 91%

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention

Aydınok

Oymak

Atabay

et al. 2018

Tjh

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“…On the other hand, nearly four million Syrian immigrants registered in Turkey live in the cities like Sanliurfa bordering Syria. When compared to previous epidemiological studies, the increase in the number of patients is remarkable [12,[20][21][22][23]. It may be stated that the number of immigrant patients in this region might have contributed to this finding.…”

Section: Discussionmentioning

confidence: 58%

Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey

Akıncı

Demir

Tunçez

et al. 2021

Family Practice and Palliative Care

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Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of a disorder in the (β-globin chains synthesis), and the gold standard method for diagnosis is genetic mutation analysis. It is important to know the distribution of mutations according to regions and races. The aim of this study is to document the mutations in the beta-globin gene of beta-thalassemia major and intermedia patients who were followed and treated in Sanliurfa province, and to examine the relationships between these mutations by defining them according to gender, nationality, consanguineous marriage, history of disease in siblings and blood type. Methods: The files of 272 patients diagnosed with beta-thalassemia major and intermedia followed up in the Pediatric Hematology-Oncology outpatient clinic of Sanliurfa Training and Research Hospital between August 2016 and August 2017 were retrospectively reviewed and mutation analyzes were documented. Coding exons and exon-intron junction regions of beta globin-HBB gene were amplified by PCR method and then DNA sequencing was performed. Gender, nationality, consanguineous marriage, sibling history and blood type information were recorded. Results: Out of 272 patients, 94.1% were thalassemia major and the others were thalassemia intermedia. Approximately one third of the patients (30.1%) were foreign nationals. A total of 27 different mutations in the beta-globin gene were detected. The most common mutation is IVS-I-110 c.93-21 (G> A) (23.1%), which is followed by IVS-I-1 c.92 + 1 (G> A) (15.8%) and Codon 39 c.118 (C> T) (11.5%). One hundred and forty-two individuals (52.2%) had no sibling history, while 103 (37.9%) had one sibling and 27 (9.9%) had two siblings with thalassemia disorder. First-degree, second degree and third degree consanguineous marriages were present in 42.6% (n = 116), 8.1% (n = 22), 11% (n = 30) of parents, respectively. Conclusions: Beta-thalassemia disease is a common hematological condition in Sanliurfa. Approximately one-third of the patients who apply are foreign nationals. Correct identification of beta-globin gene mutations will guide genetic counseling and preventing prenatal disease. This data can contribute to the national thalassemia prevention program in Turkey.

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“…Sanliurfa ranks the third province of Turkey concerning the number of pediatric beta-thalassemia major cases reported. Furthermore, a study on pediatric patients reported that Sanliurfa had the highest rates of consanguineous marriages with a frequency of almost 75% in the parents of beta-thalassemia major patients [ 12 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

“…The second most common mutation was found as IVS-I-1 (G>A) with a frequency of 13.9%. The third most common mutation was codon 39 (C>T) with a frequency of 10.4% [ 14 ]. In our study, concordant to the findings of that article, the frequencies of the IVS-I-110, IVS-I-1, and codon 39 (C>T) mutations in Turkish patients were found in frequencies of 28.8%, 11.1%, and 11.1%, respectively.…”

Section: Discussionmentioning

confidence: 99%

The Spectrum of Beta-Thalassemia Mutations in Syrian Refugees and Turkish Citizens

Güneş

Gözden²

2021

Cureus

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Introduction and objectivesNeighboring the border between Turkey and Syria, Sanliurfa is one of the Turkish provinces with the highest number of Syrian refugees in our country. We aimed to find out the spectrum of beta-globin gene mutations in adult Turkish citizens and Syrian refugees with beta-thalassemia major. ResultsOf the participants, 35 patients (70%) were Turkish citizens and 15 patients (30%) were Syrian. The most common mutation in Turkish patients was found to be IVS-I-110 (G>A) with a frequency of 28.8%, followed by IVS-I-6 (T>C) with a frequency of 15.5%. Other common mutations were IVS-I-1 (G>A) and codon 39 (C>T) with frequencies of 11.1%. These four mutations accounted for 65.5% of all mutations in the Turkish cohort. The most common mutations in Syrian refugee patients were IVS-I-1 (G>A), IVS-II-1 (G>A), IVS-I-5 (G>C), and codon 5 (-CT), all with a frequency of 15.7%, accounting for 62.8% of all mutations in the Syrian patients. In the analysis, codon 5 (-CT) mutation (15.7% vs 0%, p=0.023) was found significantly higher in Syrian refugees compared to Turkish citizens. Discussion and conclusionsA wide spectrum of mutations was detected in beta-thalassemia major patients living in the Sanliurfa region. Mutational profiles in Turkish and Syrian patients were found to be significantly different from each other. Because marriages between Syrian refugees and Turkish citizens are increasing in our region, the genetic findings and the mutational profiles in Turkish and Syrian patients obtained in this study are thought to become useful for future prenatal molecular diagnostic tests.

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Beta-globin gene mutations in children with beta-thalassemia major from Sanliurfa province, Turkey

Cited by 8 publications

References 8 publications

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention

Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey

The Spectrum of Beta-Thalassemia Mutations in Syrian Refugees and Turkish Citizens

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