Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Serdar ÖZTUZCU; Ali BAY; Gülper NACARKAHYA; Mustafa ULAŞLI; Elif AKTEKİN; Sinan AKBAYRAM; Murat KORKMAZ; Füsun TAŞGÜL; Ahmet ARSLAN

doi:https://doi.org/10.5799/jcei.328520

Makale detayları

Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Yazarlar:

Serdar ÖZTUZCU | Ali BAY | Gülper NACARKAHYA | Mustafa ULAŞLI | Elif AKTEKİN | Sinan AKBAYRAM | Murat KORKMAZ | Füsun TAŞGÜL | Ahmet ARSLAN

Yayıncı:

Sağlık Araştırmaları Derneği

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Journal of Clinical and Experimental Investigations 2016 Vol.7 Issue 4, pp.265-268

Belge Tipi:

Makale

Yayın Tarihi:

11/2016

Belge Dili:

Türkçe

Document ID (Org No.):

2000833174

Sıklık:

Üç Aylık

eISSN:

1309-6621

pISSN:

1309-8578

DOI:

https://doi.org/10.5799/jcei.328520

Özet:

 


Introduction: Beta-thalassemia is the most common autosomal recessive disease. More than 200 different
mutations determined in beta-globin gene. Beta thalassemia disease has a severe clinical picture. Treatment of the
diseases should be maintained properly otherwise quality of life and life period can be affected. In this study, we tried
to reveal inherited beta-thalassemia mutations in surrounding areas of Gaziantep.
Material and Methods: In this study, we included 208 patients who applied with beta -thalassemia suspicion to the
pediatric hematology clinic (age range 4-14). In that study, 138 patients with homozygous mutations and 70 patients’
heterozygous mutations were identified. HBB gene was sequenced by Sanger DNA Sequencing method.
Results: Most common homozygote mutations are IVS I-110 G>A, IVS I-1 G>A, IVS II-1 G>A, the heterozygote
mutations are IVS I-110 G>A, IVS II-1 G>A, codon 8 (AA) del. The incidence of IVS 1.110 (G>A) mutation is 24%, 28
in homozygote patients, 29.7% in heterozygote patients. The 8% homozygote patients and 19.7% heterozygote
patients were effected with IVS 1.110 (G>A) mutation.
Conclusion: The consanguinity marriages are very abundant particularly in our region due to fact that we are able to
see many autosomal recessive diseased in our region. Reducing incidence of autosomal recessive disease by given
genetic counseling could help the solution but it is still a major problem. J Clin Exp Invest 2016; 7(4): 265-268 

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Makale detayları

Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Yazarlar: Serdar ÖZTUZCU | Ali BAY | Gülper NACARKAHYA | Mustafa ULAŞLI | Elif AKTEKİN | Sinan AKBAYRAM | Murat KORKMAZ | Füsun TAŞGÜL | Ahmet ARSLAN

Yayıncı: Sağlık Araştırmaları Derneği

Ana Başlıklar: Sağlık teşvikleri

Dergi: Journal of Clinical and Experimental Investigations 2016 Vol.7 Issue 4, pp.265-268

Belge Tipi: Makale

Yayın Tarihi: 11/2016

Belge Dili: Türkçe

Document ID (Org No.): 2000833174

Sıklık: Üç Aylık

eISSN: 1309-6621

pISSN: 1309-8578

DOI: https://doi.org/10.5799/jcei.328520

Sayı

Yazarlar:

Serdar ÖZTUZCU | Ali BAY | Gülper NACARKAHYA | Mustafa ULAŞLI | Elif AKTEKİN | Sinan AKBAYRAM | Murat KORKMAZ | Füsun TAŞGÜL | Ahmet ARSLAN

Yayıncı:

Sağlık Araştırmaları Derneği

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Journal of Clinical and Experimental Investigations 2016 Vol.7 Issue 4, pp.265-268

Belge Tipi:

Makale

Yayın Tarihi:

11/2016

Belge Dili:

Türkçe

Document ID (Org No.):

2000833174

Sıklık:

Üç Aylık

eISSN:

1309-6621

pISSN:

1309-8578

DOI:

https://doi.org/10.5799/jcei.328520