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

Sinem Yalçıntepe

doi:10.19161/etd.660966

EN TR

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

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.

Keywords

Beta thalassemia,Thrace region,mutation,anemia

References

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Details

Primary Language

Turkish

Subjects

Health Care Administration

Journal Section

Research Article

Authors

Sinem Yalçıntepe ^*
0000-0002-8557-8885
Andorra

Publication Date

December 30, 2019

Submission Date

July 16, 2018

Acceptance Date

September 7, 2018

Published in Issue

Year 1970 Volume: 58 Number: 4

DOI

https://doi.org/10.19161/etd.660966

IZ

https://izlik.org/JA65ED56YR

Cite

RIS / Bibtex

Vancouver

1.Sinem Yalçıntepe. Trakya Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde beta talasemi minor kliniği ile incelenen bireylerde görülen beta globin mutasyonları ve sıklığı. EJM. 2019 Dec. 1;58(4):330-5. doi:10.19161/etd.660966

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

Abstract

Keywords