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Journals / Ege Tıp Dergisi / 2019 / Cilt: 58 - Sayı: 4

Beta globin mutations in beta thalassemia minor patients in Genetics Diagnosis Center of Trakya University Faculty of Medicine

Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı

SİNEM YALÇINTEPE
Pages
330–335
DOI
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⚡ TL;DR(Too Long; Didn't Read)

Conclusion: Our results are presenting that beta thalassemia trait is not frequent only in Aegean, Mediterranean and Southeast Anatolia region in Turkey geography, but also frequent in the Thrace region to the literature.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: Beta thalassemia is an autosomal recessive genetic disorder caused by more than four hundred mutations in the beta globin (HBB-Hemoglobin Beta Locus) gene. 236 patients referred to our Genetic Disorders Diagnosis Center with beta thalassemia minor clinic to determine the frequency of HBB gene mutations in the Thrace Region.
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Key Findings & Data:Results: 98 heterozygous HBB gene mutations were detected in 97 (41.1%) patients.
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Conclusion & Impact:Conclusion: Our results are presenting that beta thalassemia trait is not frequent only in Aegean, Mediterranean and Southeast Anatolia region in Turkey geography, but also frequent in the Thrace region to the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Aim: Beta thalassemia is an autosomal recessive genetic disorder caused by more than four hundred mutations in the beta globin (HBB-Hemoglobin Beta Locus) gene. 236 patients referred to our Genetic Disorders Diagnosis Center with beta thalassemia minor clinic to determine the frequency of HBB gene mutations in the Thrace Region. Materials and Methods: Beta globin genetic analysis was performed by sanger sequence from peripheral blood samples obtained from all included cases. Results: 98 heterozygous HBB gene mutations were detected in 97 (41.1%) patients. HBB gene mutations were IVS I.110 (G>A) (28.6%), Codon 39 (C>T) (18.4%), IVS1-1G>A, c.92+1 (G>A) (8.2%), IVS II.745 (C>G) (7.1%), IVS I.6 (T>C) (5.1%), Codon 8 (-AA), c.25.26.delAA (4.1%), Codon 44 (-C) (4.1%), Hb F Carlton (3.1%), Cd 5 [-CT], c.17.18delCT (3.1%), cd8/9+G, c.27_28insG, c.27dupG (3.1%), c.364 G>A, p.Glu122Lys (3.1%), c.-31 C>T (3.1%), CD6 –A, c.20delA (3.1%), c.*+111A>G (PolyA) (A>G) (2%), IVS-II-1 (G>A), c.315+1 G>A (1%), c.30.31insT, p.Ala11Cysfs (1%), CD26 G>A (Hb E), c.79 G>A (1%), CD15 G>A, c.48 G>A (1%). In our study, we found eighteen different HBB gene mutations in the Thrace region. Conclusion: Our results are presenting that beta thalassemia trait is not frequent only in Aegean, Mediterranean and Southeast Anatolia region in Turkey geography, but also frequent in the Thrace region to the literature.

Özet

Amaç: Beta talasemi, Beta Globin (HBB-Hemoglobin Beta Locus) genindeki dört yüzden daha fazla mutasyonun neden olduğu otozomal resesif kalıtımlı genetik bir hastalıktır. Trakya Bölgesinde HBB geni mutasyonlarını ve sıklığını saptamak amacı ile beta talasemi minor kliniği ile Genetik Hastalıklar Tanı Merkezimize gönderilen 236 hasta çalışmaya dahil edildi. Gereç ve Yöntem: Çalışmaya dahil edilen tüm olgulardan elde edilen periferik kan örneklerinden, sanger sekans yöntemiyle beta globin geni dizi analizi yapıldı. Bulgular: 97 (%41,1) hastada 98 adet heterozigot HBB geni mutasyonu saptandı. HBB geni mutasyonları IVS I.110 (G>A) (%28,6), Codon 39 (C>T) (%18,4), IVS1-1G>A, c.92+1 (G>A) (%8.2), IVSII-745 (C>G) (%7,1), IVS-I-6 (T>C) (%5,1), Codon 8 (-AA), c.25.26.delAA (%4,1), Codon 44 (-C) (%4,1), Hb F Carlton (%3,1), Cd 5 [-CT], c.17.18delCT (%3,1), cd8/9+G, c.27_28insG, c.27dupG (%3,1), c.364 G>A, p.Glu122Lys (%3,1), c.-31 C>T (%3,1), CD6 –A, 20delA (%2), c.*+111A>G (PolyA) (A>G) (%2), IVS-II-1 (G>A), c.315+1 G>A (%1), c.30.31insT, p.Ala11Cysfs (%1), CD26 G>A (Hb E), c.79 G>A (%1), CD15 G>A, c.48 G>A (%1) olarak tespit edildi. Çalışmamızda Trakya Bölgesi’nde on sekiz farklı HBB geni mutasyonu saptadık. Sonuç: Çalışma sonuçlarımız beta talasemi taşıyıcılığının Türkiye coğrafyasında sadece Ege, Akdeniz ve Güneydoğu Anadolu Bölgesinde değil, Trakya Bölgesinde de sık olduğunun bilgisini literatüre sunmaktadır.

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Cite This Article

YALÇINTEPE, S. (2019). Beta globin mutations in beta thalassemia minor patients in Genetics Diagnosis Center of Trakya University Faculty of Medicine. Ege Tıp Dergisi, Cilt: 58 - Sayı: 4, 330–335. https://ajindex.com/articles/223419

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References (15)

  1. Tadmouri GO, Başak AN. β-thalassemia in Turkey; A review of the clinical epidemiological molecular and evolutionary aspects, Hemoglobin 2001; 25 (2): 227-39
  2. Özkınay F, Onay H, Karaca E, Arslan E, Ertürk B, Ece Solmaz A, et al. Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. Hemoglobin. 2015; 39 (4): 230-4. doi: 10.3109/03630269.2015.1038354. Epub 2015 Jun 15
  3. Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Diseases 2010; 5: 11 4. Canatan D. Thalassemias and hemoglobinopathies in Turkey. Hemoglobin. 2014; 38: 305–7
  4. Rund D, Rachmilewitz E. Pathophysiology of Alpha and Beta - thalassemia: Therapeutic implications. Sem Hematol, 2001; 38 (4): 343-9
  5. Christianson A, Howson CP, Modell B. The hidden toll of dying and disabled children. March of Dimes Global Report on Birth Defects. March of Dimes Birth Defects Foundation, White Plains, NY, USA; 2006
  6. Modell B, Darlison M. Global epidemiology of hemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–7
  7. Ansari SH, Shamsi TS. Thalassaemia Prevention Programme. Haematology Updates. 2010; 23–8
  8. Aksoy M, Dinçol G, Erdem S. Survey on Hb variants, beta-thalassemia, G6PD deficiency and hain haptoglobin types in Turkish people living in Manavgat, Serik, Boztepe (Antalya). Human Heredity 1980; 30: 3
  9. Bircan I, Sişli S, Güven A, Cali S, Yeğin O, Ertuğ H et al. Hemoglobinopathies in the district of Antalya, Turkey. Pediatr Hematol Oncol 1993; 10: 289-91
  10. Arcasoy A, Turan F, Yeşil N, Kemahlı S, Uysal Z, Canatan D, ve ark., et al. Muğla ili ve çevresinde thalassemia ve anormal hemoglobin sıklığının taranması. Pediatride Yönelişler 1994;1: 78-81
  11. Canatan D, Arcasoy A, Bor S, Yeşil N. Elbistan yöresinde anormal Hb ve HbA2 yüksekliği ile karakterize Bthalassemia taşıyıcı taraması. Doğa Bilim Der 1990; 14: 555-61
  12. Kürkçüoğlu M, Dağcı AY, Arcasoy A, Ağbaş A. Doğu Anadolu bölgesinde beta talasemi taraması. Doğa Bilim Dergisi 1986; 8: 319-25
  13. Sözmen M, Uysal Z, Yeşil N, Akar N, Arcasoy A. Denizli’de anormal hemoglobinler ve Hb A2 yüksekliği karakterize beta-talasemi taşıyıcılığı araştırması. Ankara Tıp Fakültesi Mecmuası 1990; 43: 959-64
  14. Akar N, Uysal Z, Yeşil N, İnce E, Arcasoy A. Mustafakemal Paşa ve köylerinde anormal hemoglobinler ve Hb A2 yüksekliği karakterize beta-talasemi taşıyıcılığı araştırması. Doğa Bilim Dergisi 1990;14: 551-4
  15. Aksoy H, Bayraktar