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Journals / Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi / 2025 / Volume: 12 Issue: 3

Screening of Mutations in the Binding Domain of the SALL2 Gene in Patients with Beta Thalassemia Major

Beta Talasemi Majör Hastalarında SALL2 Gen Bağlanma Bölgesindeki Mutasyonların Taranması

Tuğba Karaman Mercan(Akdeniz Üniversitesi, Tıp Fakültesi)0000-0003-3341-9513
Yunus Arıkan(YOZGAT BOZOK ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0001-5585-6795
Erdal Kurtoğlu(Sağlık Bilimleri Üniversitesi, Antalya Eğitim ve Araştırma Hastanesi)0000-0002-6867-6053
İbrahim Keser(AKDENİZ ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-5321-0701
Pages
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Publication Date
2025-12-29
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Although no statistically significant relationship was found between the genotypes of this variant and HbF percentage levels, we believe that the high G allele frequency (65.15%) found in patients with high HbF will make a significant contribution to the management of HbF in patients with beta thalassemia major when evaluated together with other epigenetic and modifying genes.

📌 3 Key Takeaways

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Objective & Hypothesis:Beta thalassemia (βT) is an autosomal recessive disorder that exhibit a wide clinical phenotypic spectrum, ranging from severe transfusion-dependent β-thalassemia major (β-TM) to asymptomatic β-thalassemia minor (β-Tm).
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Key Findings & Data:In this study, we aimed to investigate whether mutations in the binding regions of the potential modifier SALL2 gene are associated with high fetal hemoglobin (HbF) percentages in β-TM patients.
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Conclusion & Impact:Although no statistically significant relationship was found between the genotypes of this variant and HbF percentage levels, we believe that the high G allele frequency (65.15%) found in patients with high HbF will make a significant contribution to the management of HbF in patients with beta thalassemia major when evaluated together with other epigenetic and modifying genes.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Beta Thalassemia · HbF · Modifier Gene

Abstract

Beta thalassemia (βT) is an autosomal recessive disorder that exhibit a wide clinical phenotypic spectrum, ranging from severe transfusion-dependent β-thalassemia major (β-TM) to asymptomatic β-thalassemia minor (β-Tm). This variation is primarily influenced by the effect of modifier genes, particularly those associated with fetal hemoglobin (HbF) induction. In this study, we aimed to investigate whether mutations in the binding regions of the potential modifier SALL2 gene are associated with high fetal hemoglobin (HbF) percentages in β-TM patients. Our study included a total of 66 patients from whom blood samples were collected before blood transfusion. The second exon, containing the binding domains of the SALL2 gene, was screened using the Sanger sequencing method, and the rs1263810 (c.2236C>G, g.18725C>G, p.Gly746Arg) variant was identified. Among the 66 patients, 6 (9.09%) had the CC genotype, 34 (51.51%) had the CG genotype, and 26 (39.39%) had the GG genotype, with the estimated frequencies of the C and G alleles being 34.85% and 65.15%, respectively. Our findings show that the p.Gly746Arg variant in the binding motif of the SALL2 gene is reported for the first time in β-TM patients with high HbF concentrations (%) in the Turkish population. Although no statistically significant relationship was found between the genotypes of this variant and HbF percentage levels, we believe that the high G allele frequency (65.15%) found in patients with high HbF will make a significant contribution to the management of HbF in patients with beta thalassemia major when evaluated together with other epigenetic and modifying genes.

Özet

Beta talasemi, ağır transfüzyon bağımlı β-talassemi major (β-TM) ile asemptomatik β-talassemi minor (β-Tm) arasında geniş bir klinik fenotip yelpazesi gösteren otozomal resesif geçişli hastalıklardır. Bu varyasyona, fetal hemoglobin (HbF) induksiyonu ile ilişkili modifiye edici genlerin önemli bir katkısı vardır. Bu çalışmada, potansiyel modifiye edici gen olan SALL2 geninin bağlanma bölgelerindeki mutasyonların, β-TM hastalarında yüksek fetal hemoglobin (HbF) yüzdesi ile ilişkili olup olmadığını araştırmayı amaçladık. Çalışmamıza kan transfüzyonu öncesinde kan örnekleri alınan toplam 66 hasta dahil edilmiştir. SALL2 geninin bağlanma bölgelerini içeren ikinci ekzon Sanger dizileme yöntemi kullanılarak tarandı ve rs1263810 (c.2236C>G, g.18725C>G, p.Gly746Arg) varyantı tespit edilmiştir. 66 hastanın 6'sı (%9.09) CC, 34'ü (%51.51) CG ve 26'sı (%39.39) GG genotipine sahipti ve C ve G alellerin tahmini frekansları sırasıyla %34.85 ve %65.15 olarak belirlendi. Bulgularımız, SALL2 geninin bağlanma motifindeki p.Gly746Arg varyantının, Türk populasyonunda yüksek HbF konsantrasyonu (%) seviyelerine sahip β-TM hastalarında ilk kez raporlandığını göstermektedir. Bu varyantın genotipleri ile HbF yüzdesi düzeyleri arasında istatistiksel olarak anlamlı bir ilişki bulunmamasına rağmen, yüksek HbF'ye sahip hastalarda bulunan yüksek G alel frekansının (%65.15) diğer epigenetik ve modifiye edici genlerle birlikte değerlendirildiğinde beta talasemi majör hastalarında HbF'nin yönetimine önemli bir katkı sağlayacağına inanmaktayız.

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Cite This Article

Mercan, T. K., Arıkan, Y., Kurtoğlu, E., Keser, İ. (2025). Screening of Mutations in the Binding Domain of the SALL2 Gene in Patients with Beta Thalassemia Major. Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi, Volume: 12 Issue: 3. https://doi.org/10.47572/muskutd.1658534

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