Β-Thalassemia IN TURKEY: A REVIEW OF THE CLINICAL, EPIDEMIOLOGICAL, MOLECULAR, AND EVOLUTIONARY ASPECTS

Tadmouri, Ghazi O.; Basak, A. Nazli

doi:10.1081/hem-100104031

Cited by 39 publications

(23 citation statements)

References 66 publications

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“…Türk Hemoglobinopati Konseyi tarafından yapılan çalışmada hemoglobinopati sık görüldüğü 16 şehirde 377.339 sağlıklı kişinin tarama sonuçları değerlendirildiğinde bu bölgeler-deki beta-talasemi taşıyıcılığı %4.3 olarak bulunmuştur [3]. Türkiye'de beta-talasemi taşıyıcılığının Çukurova, Hatay, İçel ve Antalya'yı içeren yüksek riskli bölgelerde popülasyon ortalamasının üzerine çıkmaktadır [1,3,4,16]. Bizim çalışmamızda evlilik öncesi taraması yapılan bireylerde beta-talasemi taşıyıcılığı %4.91 ile Türk Hemoglobinopati Konseyi tarafından yapılan çalışmadaki 16 şehrin ortalamasından yüksek tespit edilmiştir [18].…”

Section: Discussionunclassified

“…Beta-talasemi ve orak hücre anemisi (OHA) Türkiye'de en sık görülen hemoglobinopatiler olup hasta nüfus özellikle Türkiye'nin Çukurova ve Akdeniz bölgeleri-ni kapsayan güney bölgesinde yoğunlaşmaktadır [1]. Türkiye'de çok sayıda hemoglobin varyantının görülme-si, Anadolu'da yıllar boyunca gerçekleşen göç olayları sonucu çok çeşitli ırk ve kültürlerin birlikte yaşaması ve neticesinde gerçekleşen evliliklerden kaynaklanmaktadır.…”

Section: Introductionunclassified

“…Türkiye'de çok sayıda hemoglobin varyantının görülme-si, Anadolu'da yıllar boyunca gerçekleşen göç olayları sonucu çok çeşitli ırk ve kültürlerin birlikte yaşaması ve neticesinde gerçekleşen evliliklerden kaynaklanmaktadır. Akraba evlilikleri en çok birinci dereceden akrabalar arasında gerçekleşmektedir ve nadir görülen otozomal resesif geçişli hastalıkların toplumdaki sıklığının artmasına neden olmaktadır [1,2].…”

Section: Introductionunclassified

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Premarital Hemoglobinopathy Screening Study: Is Kadirli Prevalent Thalassemia Area Of Turkey?

Şahpaz¹,

Sarıcı²,

Uluganyan³

et al. 2014

Turk J Bioch

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Objective: Hemoglobinopathy is one of the most widespread inherited disorders in Turkey and preventable with premarital screening programs. The aim of this study was determining the prevalence of hemoglobinopathies in Kadirli and discussing the necessity of premarital screening in this prevalent region by evaluating the results of premarital screening that is compulsory for all couples before marriage. Methods: This study was retrospectively conducted between January and November 2013 in Kadirli State Hospital. The results of all couples who applied for premarital screening (n=1994) were included the study. Additionally, screening results of 139 patients, who were admitted to the hospital without premarital screening, were also included in the study. Totally, 2133 screenings were included in this study. All samples were measured by high-performance liquid chromatography (HPLC) to determine haemoglobinopathies. Results: The number of beta-thalassemia trait was 98 (%4,91) in 1994 premarital screening. Hemoglobin D was the most common abnormal hemoglobin by 5 trait (%0.46) and 1 homozygote (%0.09). Hemoglobin S-Trait was also detected in 2 patient, as well as one HbE trait. The frequency of beta-thalassemia trait was 10 (%7.19) in 139 patients who were admitted to the hospital without premarital screening. None of those had variant hemoglobin type. Conclusion: According to the results of premarital screening, Kadirli beta-thalassemia trait was observed to be over the average of Turkey, while it was below the average of Çukurova and the Mediterranean region where Kadirli is located in. The results showed that premarital hemoglobinopathy screening should be kept being applied for all partners planning to get married in Kadirli. Additionally, all these people with variant Hb traits should be evaluated by further molecular genetic analysis in terms of its diversity of hemoglobinopathies.

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Section: Discussionunclassified

Section: Introductionunclassified

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Premarital Hemoglobinopathy Screening Study: Is Kadirli Prevalent Thalassemia Area Of Turkey?

Şahpaz¹,

Sarıcı²,

Uluganyan³

et al. 2014

Turk J Bioch

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“…ß talasemi de genin büyük bir kısmının kaybına neden olan mutasyonlar nadirdir. Eğer bir tane hatalı ß Bir başka çalışmalarında ise yaygın olarak görülen 7 tane mutasyonun Türk populasyonunda görülen mutasyonların % 7'sini oluşturduğunu ve bunların sırasıyla % 41 IVS I-110, % 13 IVS I-6, % 8 IVS II-1, %6 Cd8, % 5 IVS I-1 ve % 5 IVS II-745 mutasyonları olduğunu bildirmişlerdir [15].…”

Section: Introductionunclassified

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

Öztuzcu¹,

Bay²,

Nacarkahya³

et al. 2016

J Clin Exp Invest

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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.

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“…In addition 42 abnormal hemoglobins were identified in the Turkish population. In 2002, Başak and colleagues [5 ]reported the spectrum of β-thalassemia mutations occurring in the Turkish population.…”

Section: Introductionmentioning

confidence: 99%

Hemoglobinopathy Control Program in Turkey

Canatan

Üstündağ

et al. 2006

Public Health Genomics

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Hemoglobinopathies are a very important health problem in Turkey. To date many studies have been performed but there has been no national hemoglobinopathy control program (HCP). After the Turkish National Hemoglobinopathy Council (TNHC) was created all centers, foundations, and associations were combined into one organization controlled by the Ministry of Health (MOH). The MOH and the TNHC have started to register the results of the screening of 377,339 healthy subjects from 16 different cities and the recorded average frequency of the β-thalassemia trait was 4.3%. The highest prevalence of theβ-thalassemia trait (13.1%) was found in the Antalya region and of the HbS trait (10%) in the Çukurova region. Next, written regulations for the Fight against Hereditary Blood Disease were published especially for preventing and treating hemoglobinopathies. The MOH and the TNHC selected 33 provinces situated in the Thrace, Marmara, Aegean, Mediterranean and South Eastern regions with a high birth prevalence of severe hemoglobinopathies. The hemoglobinopathy scientific committee was set up, a guidebook was published and a national HCP was started in these high-risk provinces.

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Β-Thalassemia IN TURKEY: A REVIEW OF THE CLINICAL, EPIDEMIOLOGICAL, MOLECULAR, AND EVOLUTIONARY ASPECTS

Cited by 39 publications

References 66 publications

Premarital Hemoglobinopathy Screening Study: Is Kadirli Prevalent Thalassemia Area Of Turkey?

Premarital Hemoglobinopathy Screening Study: Is Kadirli Prevalent Thalassemia Area Of Turkey?

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

Hemoglobinopathy Control Program in Turkey

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