Prevalence and Molecular Analysis of β-Thalassemia in Adiyaman, Turkey

Genç, Ahmet; Korkmaz, Deniz Taştemir; Buyukleyla, Mehmet; Çeliker, Murat

doi:10.3109/03630269.2012.658128

Cited by 9 publications

(5 citation statements)

References 22 publications

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“…The corresponding figures in the southeastern Anatolia cities were 1.30 and 1.87% in Adiyaman and Gaziantep, respectively (Table 2) (8,11,(14)(15)(16). The highest frequency rate of b-thal incidence among the Southeastern Anatolian provinces (compared with Adiyaman and Gaziantep) was found in Sanliurfa.…”

Section: Discussionmentioning

confidence: 82%

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Prevalence of β-Thalassemia Trait and Abnormal Hemoglobins in Sanliurfa Province in Southeast Turkey

et al. 2014

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Thalassemia is one of the most common hereditary disorders in Turkey, especially in the Mediterranean region of the country. The purpose of this study was to determine the frequency of the β-thalassemia (β-thal) trait and abnormal hemoglobins (Hbs) in couples who applied for premarital screening in Sanliurfa Province, in the southeastern region of Turkey, a province with the first reported incidence of β-thal and abnormal Hbs. In the present study, in order to detect the prevalence of the β-thal trait and abnormal Hbs in Sanliurfa Province, Turkey, a total of 37,962 couples who applied for premarital screening were analyzed. From January 2011 through March 2014, red blood cell (RBC) counts and Hb fractionation were carried out by a cell counter and high performance liquid chromatography (HPLC), respectively. The prevalence of β-thal with high Hb A2 (>3.5%) values was found at rates of 2.44% (n = 1853) in Sanliurfa Province. Additionally, the abnormal Hb rate was 1.57% (1193/75,924), and Hb S (HBB: c.20T > A), Hb C (HBB: c.19G > A) and Hb D-Punjab (HBB: c.364G > C) were reported as 0.50, 0.38 and 0.69, respectively. This study is the first to establish the frequency of β-thal and abnormal Hbs in Sanliurfa Province, which has the highest birth frequency. We report that the frequency of the β-thal trait is at a high-risk level compared to other cities in Turkey. Due to the high risk of β-thal in Sanliurfa Province, a premarital screening program would be of great value in informing parents about offspring with β-thal.

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Section: Discussionmentioning

confidence: 82%

“…It is important to prevent the birth of children with b-TM, especially where the condition is prevalent (5,7). However, the frequency of heterozygous b-thal is unknown in some cities in Turkey; this is especially true for some eastern and southeastern regions (8).…”

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confidence: 99%

Prevalence of β-Thalassemia Trait and Abnormal Hemoglobins in Sanliurfa Province in Southeast Turkey

et al. 2014

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“…In Malaysia, it was estimated that 4.5% of the population were carriers for thalassaemia, and this is similar to our finding (22). In Turkey the frequency of β-thalassaemia carriers in the city of Adıyaman was low (1.91%) (23).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of thalassaemia, iron-deficiency anaemia and glucose-6-phosphate dehydrogenase deficiency among Arab migrating nomad children, southern Islamic Republic of Iran

Pasalar

Mehrabani

Afrasiabi

et al. 2014

East Mediterr Health J

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This study investigated the prevalence of iron-deficiency anaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and β-thalassaemia trait among Arab migrating nomad children in southern Islamic Republic of Iran. Blood samples were analysed from 134 schoolchildren aged < 18 years (51 males, 83 females). Low serum ferritin (< 12 ng/dL) was present in 17.9% of children (21.7% in females and 11.8% in males). Low haemoglobin (Hb) correlated significantly with a low serum ferritin. Only 1 child had G6PD deficiency. A total of 9.7% of children had HbA2 ≥ 3.5 g/ dL, indicating β-thalassaemia trait (10.8% in females and 7.8% in males). Mean serum iron, serum ferritin and total iron binding capacity were similar in males and females. Serum ferritin index was as accurate as Hb index in the diagnosis of iron-deficiency anaemia. A high prevalence of β-thalassaemia trait was the major potential risk factor in this population.

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“…In our study, this mutation has the highest frequency of 26.08%, lower than the average for Turkey and different to a range of regions in Turkey [ 2 , 7 - 9 ]. The frequency of HBB : c.93-21G>A in β-thal mutations exceeds 50.0% in Central Anatolia, but falls to 25.0% in East and Southeast Anatolia [ 2 , 10 , 11 ]. Keser et al .…”

Section: Discussionmentioning

confidence: 99%

“…The same mutation was reported as 49.02% in the Central Anatolia region by Beksaç et al . [ 9 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey

Uludağ

Uysal

Ertekin

et al. 2016

Balkan Journal of Medical Genetics

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The prevalence of β-thalassemia (β-thal) carriers in Turkey varies according to region but in general it is 2.0%. Çanakkale is a city in the Aegean region of Turkey but no study about β-thal frequency in Çanakkale has been published to date. In this study, we aimed to investigate the frequency of β-thal mutations in this province. A total of 4452 couples (8904 individuals) applied for premarital thalassemia scans at the Çanakkale State Health Directorate Laboratory between January 2008 and June 2012 and scanning was done with high performance liquid chromatography (HPLC). Of 125 β-thal carriers seen at the Medical Genetics Clinic, Çanakkale Onsekiz Mart University, Çanakkale, Turkey, for genetic counseling, 46 participated in the study. The remaining 79 patients could not be reached. The prevalence for β-thal carriers in Çanakkale was identified as 1.4% (125/8904). One couple were both β-thal carriers. β-Globin gene analysis of 46 carriers found the total frequency of the three most common mutations was 45.6%. These mutations were found to be HBB: c.93-21G>A [IVS-I-110 (G>A)], 26.08% (12/46); HBB: c.17_ 18delCT [codon 5 (‒CT)], 10.85% (5/46); HBB: c.20delA [codon 6 (‒A)] 8.69% (4/46). This is the first report on the frequency and mutation profiles of β-thal for Çanakkale. The incidence of β-thal carriers in Çanakkale is below the average for Turkey. The most frequently observed mutation profile and rate of β-thal in our region is different from the other regions of Turkey.

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Prevalence and Molecular Analysis of β-Thalassemia in Adiyaman, Turkey

Cited by 9 publications

References 22 publications

Prevalence of β-Thalassemia Trait and Abnormal Hemoglobins in Sanliurfa Province in Southeast Turkey

Prevalence of β-Thalassemia Trait and Abnormal Hemoglobins in Sanliurfa Province in Southeast Turkey

Prevalence of thalassaemia, iron-deficiency anaemia and glucose-6-phosphate dehydrogenase deficiency among Arab migrating nomad children, southern Islamic Republic of Iran

Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey

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