Prevention of Hemoglobinopathies in Turkey

Çürük, Mehmet Akif; Yalın, Erdinç; Aksoy, Kıymet

doi:10.4081/thal.2013.e1

Cited by 6 publications

(2 citation statements)

References 14 publications

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“…Although the average rate of β-thalassemia trait is 2.1% in overall Turkey, this rate is up to 10% in the Mediterranean region and its surrounding areas. 3,4 The treatment to sustain life in thalassemia major is necessary regular blood transfusion with iron chelation but this requires much commitment on part of the family. 9 The treatment is also hampered by less of blood resources available and lack of motivated voluntary donors.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, 20% of the β-thalassemia mutations (42 of 200) and 5% of abnormal hemoglobins (52 of 1000) reported worldwide have been detected in Turkey. [3][4][5] Incidence of β-thalassemia trait is given as 2%, but at some regions this ratio increase as high as 10%. IVSI-110 is the most common beta thalassemia mutation in Turkey, and IVSI-6, Fsc 8, IVSI-1, IVSII-745, IVSII-1, Cd39, -30 and Fsc5 mutations follow this.…”

Section: Introductionmentioning

confidence: 99%

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Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report

Kurutaş¹,

Aksan²,

Curuk³

et al. 2021

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Background: Beta thalassemia is one of the most common autosomal single-gene disorders in the world. The prevalence of the disease is in the “thalassemia belt” which includes the Mediterranean region of Turkey; throughout the country the gene frequency is estimated to be 2.1%, but in certain regions, this figure increases to 10%. Aim: In this first study, we aimed to determine the frequency of β-thalassemia trait and distrubition of mutations in Kahramanmaraş province, which is located in the southern part of Turkey. Materials and Methods: In this study; 5 ml blood samples was taken from 14 thalassemic patients and their relatives who were taking care of Sutcu Imam University Hospital at Kahramanmaraş. Also, we collected blood samples from 245 adults for screening beta thalassemia trait. Haematological data were obtained by cell counter.  HbA2 was determined by HPLC. Ten common mutations were screened by ARMS  (Amplification Refractory Mutation System) method. These β-thalassemia mutations are -30 (T>A), Fsc8 (-AA), Fsc8/9 (+G), IVS1-1 (G>A), IVS1-5 (G>C), IVS1-6 (T>C), IVS1-110 (G>A ), Cd 39 ( C>T), IVS2-1 (G>A), IVS 2-745 (C>G). A rare mutation; Fsc44 (-C) was charecterized by DNA sequencing. Results: Ten patients were detected as homozygous for IVS1-110 (seven cases), Fsc 44 (two cases) and IVS1-5 (only one case). Rest of the 4 patients were double heterozygous (two: IVS1-110/IVS1-6, one: Fsc8/Fsc8-9, one: IVS2-1/IVS1-5). In 245 adult, five  β-thalassemia trait were detected by screening survey.  Conclusion: Sixteen alleles were detected as IVS1-110 in 57.1%. It was seen the most common mutation in Kahramanmaraş. Seven different β-thalassemia mutations were found in this study. Each of 10 families have only one thalassemic patient, other two families have double thalassemic patient in total 12 family.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report

Kurutaş¹,

Aksan²,

Curuk³

et al. 2021

View full text Add to dashboard Cite

show abstract

Presentation of two new mutations in the 3′untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey

et al. 2021

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The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey

Yilmaz

2019

Hemoglobin

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Prevention of Hemoglobinopathies in Turkey

Abstract: Hemoglobinopathies are the most common genetic disorders in Turkey.

Cited by 6 publications

References 14 publications

Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report

Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report

Presentation of two new mutations in the 3′untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey

The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey

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Prevention of Hemoglobinopathies in Turkey

Abstract: Hemoglobinopathies are the most common genetic disorders in Turkey.

Cited by 6 publications

References 14 publications

Genetic heterogeneity of beta thalassemia mutations in Kahramanmara&#351; province in Southern Turkey: preliminary report

Genetic heterogeneity of beta thalassemia mutations in Kahramanmara&#351; province in Southern Turkey: preliminary report

Presentation of two new mutations in the 3′untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey

The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey

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Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report

Genetic heterogeneity of beta thalassemia mutations in Kahramanmaraş province in Southern Turkey: preliminary report