Hemoglobinopathy Control Program in Turkey

Canatan, Duran; Mr, Kose; Üstündağ, Mehmet; Haznedaroğlu, Damla İşman; Özbaş, Sema

doi:10.1159/000091493

Cited by 71 publications

(68 citation statements)

References 7 publications

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“…Turkey has had a national hemoglobinopathy screening program since 2002, known as the Fight against Hereditary Blood Disease [14]. The program's guidelines were developed for the prevention and treatment of hemoglobinopathies.…”

Section: Discussionmentioning

confidence: 99%

Beta-globin gene mutations in children with beta-thalassemia major from Sanliurfa province, Turkey

Ayçicek

Koç²,

Özdemir³

et al. 2011

Turk J Hematol

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Objective: The prevalence of β-thalassemia in Şanlıurfa province, Turkey is reported to be 2.6%-3.7%, whereas nation-wide the frequency of β-thalassemia is 2%. This study aimed to identify the most frequent β-thalassemia mutations in Şanlıurfa province. Materials and Methods: In total, 22 mutations were investigated in 115 pediatric patients with β-thalassemia using a commercially available reverse dot blot platform. Results: The study included 60 male and 55 female patients with a mean age of 7.3±4.6 years (range: 1-17 years). In total, 76% of the patients had consanguineous parents. In all, 16 different mutations were observed in the 115 patients. IVS-1-110 (G-A) (29.1%), IVS-1-1 (G-A) (13.9%), codon 39 (C>T) (10.4%), and codon 8 (-AA) (9.1%) accounted for 62.5% of all the β-thalassemia mutations, and 6% of the patients had 2 different thalassemia mutations. According to the present results, IVS-1-110 (G>A) was the most frequent mutation observed in the patients from Şanlıurfa province, as in other geographical regions of Turkey. In addition, the following 34 compound heterozygote mutant alleles were observed; IVS-1-1 (G>A)/IVS 2. Province. The present findings may be of value for genetic counseling, and premarital and prenatal diagnosis in Şanlıurfa province. (Turk J Hematol 2011; 28: 264-8)

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Section: Discussionmentioning

confidence: 99%

Beta-globin gene mutations in children with beta-thalassemia major from Sanliurfa province, Turkey

Ayçicek

Koç²,

Özdemir³

et al. 2011

Turk J Hematol

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“…There are approximately 1.4 million carriers and about 4.500 patients in Turkey. Between 1995 and-2000, the Ministry of Health and the National Hemoglobinopathy Council collected screening studies performed by 16 centers in Marmara, Aegean, and the Mediterranean regions, and reported the frequency as 4.3% [4].…”

Section: Introductionmentioning

confidence: 99%

Serum Lipid Values in Children with Beta Thalassemia Major

Arıca¹

2012

Pediat Therapeut

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Objective: The purpose of the study was to examine the blood lipid profile in children with beta-Thalassemia major, and to determine the factors that affect it.Material and Method: Files of eighty-five patients between the ages of five and fifteen with beta-Thalassemia major who were receiving regular chelation therapy followed by from paediatric policlinic of our hospital were examined retrospectively. Blood lipid profiles of fifty-five healthy children were taken for use as the control group. A total of 117 children were enrolled and examined in the study. Findings:Hb and Hct values of the group with Beta-Thalassemia major were significantly lower than the control group (p<0.005). Ferritin values in the group with Beta-Thalassemia major were found to be significantly higher than in the control group (p<0.005). Cholesterol, HDL-cholesterol, LDL-cholesterol levels were found to be significantly lower in patients with Beta-Thalassemia major than in the control group (p<0.001), while the triglyceride level was found to be higher (p<0.001). Result:We determined a positive correlation between triglyceride and serum ferritin levels. It may indicate excessive iron loading, and changes in blood lipid values in patients with Beta-Thalassemia major.

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“…Ülkemizde hemoglobinopatilerin yüksek oranda görüldüğü bölgelerde yapılan tarama ve bilgilendirme çalışmalarıyla beta-talasemili ya da orak hücre anemili çocuk doğum sıklığında belirgin azalmalar Türkiye'de en sık görülen anormal hemoglobinlerden biri de OHA'ye neden olan HbS'dir [3]. Sonraki nesillere aktarılan bozuk gen sadece tek bir ebeveynden kalıtıldığı durumda HbS taşıyıcılığı meydana gelmekteyken her iki ebeveynden geni kalıtıldığı durumda OHA hastalığı söz konusu olur.…”

Section: Discussionunclassified

“…Hemoglobinopatilerde mortalite ve morbiditenin yük-sek olması, takip ve tedavinin maliyetli olması sebebiyle hastalığın yoğun olduğu bölgelerde evlilik öncesi hemoglobinopati taraması yapılmaktadır [3]. Bu çalışmalar sonucunda, 2003 yılından beri birçok ilde beta-talasemi merkezi kurulmuş olup, 2009 yılında evlenen çiftlerin %82'si taranmıştır, böylece yeni doğan beta-talasemi hastası da %87 azalmıştır [4][5][6][7][8].…”

Section: Introductionunclassified

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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Hemoglobinopathy Control Program in Turkey

Cited by 71 publications

References 7 publications

Beta-globin gene mutations in children with beta-thalassemia major from Sanliurfa province, Turkey

Beta-globin gene mutations in children with beta-thalassemia major from Sanliurfa province, Turkey

Serum Lipid Values in Children with Beta Thalassemia Major

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

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