Novel Βeta (β)-Thalassemia Mutation in Turkish Children

Ulaşlı, Mustafa; Öztuzcu, Serdar; Kirkbes, Sevil; Bay, Ali; İğci, Yusuf Ziya; Bayraktar, Recep; İğci, Mehri; Ergün, Sercan; Çakmak, Ecir Ali; Aytekin, Elif Soyak; Arslan, Ahmet

doi:10.1007/s12288-014-0380-6

Cited by 6 publications

(2 citation statements)

References 14 publications

(34 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The second most common mutation was IVS-I-1 (G>A) with a frequency of 12.4% and the third most common was IVS-I-6 (T>C) with a frequency of 9.4%. The mutation profile in Turkish patients in our city is similar to the profile found out in the neighboring province Gaziantep [15].…”

Section: Discussionsupporting

confidence: 84%

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

Güneş

Gözden²

2021

Cureus

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 84%

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

Güneş

Gözden²

2021

Cureus

View full text Add to dashboard Cite

show abstract

“…Codon 14 [+T] was specific for the Azerbaijanian population and has not been reported from other populations so far (Aliyeva et al., ). Codons 82/83 [–G], although first reported from Azerbaijan, were then identified in Czechs, Iraqi Kurds, Iranians, and Turks (Al‐Allawi, Jalal, Mohammad, Omer, & Markous, ; Indrak et al., ; Neishabury et al., ; Schwartz et al., ; Ulasli et al., ). Unlike previous studies, our study group solely consisted of β‐thalassemia carriers identified through population screening.…”

Section: Resultsmentioning

confidence: 99%

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations

Aliyeva¹,

Asadov²,

Mammadova³

et al. 2019

Annals of Human Genetics

View full text Add to dashboard Cite

With the carrier rate of 4%–8.6%, β‐thalassemia is one of the most prevalent hereditary disorders in Azerbaijan. Taking into consideration the high frequency of β‐thalassemia as well as the occurrences of several other hemoglobinopathies, we conducted a large genotyping study to investigate the mutational background of common hemoglobinopathies in the country. Α‐ and β‐globin genes were evaluated in the carriers of mutations identified via hematological indices and hemoglobin fractions (n = 1,757). Genotyping of β‐thalassemia carriers identified through population screening revealed 32 mutations, with codon 8 [–AA]–34.96%, IVS‐II‐1 [G > A]–16.35%, and IVS‐I‐110 [G > A]–10.12% leading the spectrum. Analysis of associations of β‐thalassemia mutations with geographical regions of the country identified the strongest association between codon 8 [–AA] and Shaki‐Zaqatala, and codon 5 [–CT] in Mountainous Shirvan regions (ri > 6.00; p < 0.05). HbS, HbD‐Punjab, and HbE were the most prevalent among our variant hemoglobin cohort, commonly inherited in compounds with β‐thalassemia than in the homozygous state. We identified nine α‐thalassemia mutations, 20.5 kb and 3.7 kb deletions together accounting for 74% of the spectrum. Point mutations of α‐thalassemia were less common among our observations and were mainly inherited in compounds with deletions. Our results allow a better understanding of the wide spectrum of mutations in Azerbaijan and highlights the high heterogeneity of hemoglobinopathies in the local population.

show abstract

The frequency of 6 beta-thalassemia mutations in the Iraqi patients from Najaf province

2019

View full text Add to dashboard Cite

Novel Βeta (β)-Thalassemia Mutation in Turkish Children

Abstract: Beta (b)-thalassemia is the most frequently observed hereditary blood disorder in the world. It is characterized by deficiency of hemoglobin b-globin gene and is also a profoundly heterogeneous both at the molecular and clinical level.

Cited by 6 publications

References 14 publications

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

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

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations

The frequency of 6 beta-thalassemia mutations in the Iraqi patients from Najaf province

Contact Info

Product

Resources

About