Background/Aim: α-Thalassemia (α-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the α-globin chains, and it has been found at a high incidence in Turkey. Our aim in this study was to determine the frequency and molecular properties of α-thal in Adana, Turkey. Material and Methods: A total of 3,000 individuals comprising premarital couples or patients with anemia were screened between 2007 and 2008. Hematological parameters were analyzed using an automatic cell counter, and to detect the carriers of hemoglobin variants, high-performance liquid chromatography was used. Molecular screening of the α-globin gene was carried out by an Alpha-Globin StripAssay® which is based on multiplex PCR for specific amplification. Results: We have identified 225 cases with α-thal and found that the prevalence of α-thal is 7.5% in this area. In molecular analyses, the α-thal gene mutations α^3.7, α^4.2, --^MED, --^20.5, α^PA-2α, ααα^anti-3.7, and α^PA-1α were detected. Conclusion: Our results showed that the α-thal mutations represent a great heterogeneity and that the -α^3.7 deletion has the highest frequency in Adana.

Amaç: İn vitro fertilizasyon (İVF) ve embriyonik manipülasyonlar yoluyla gebe kalan kadınlarda hormon kullanımı, pulmoner hipertansiyon olasılığı da dahil olmak üzere yenidoğanların sağlığıyla ilgili endişeleri artırmıştır. Bu nedenle bu çalışma, term İVF yenidoğanlarında pulmoner arter basıncını değerlendirmeyi amaçlamıştır. Gereç ve Yöntemler: Bu prospektif kesitsel çalışma Mart 2013 ile Ekim 2017 arasında gerçekleştirilmiştir ve 160 İVF yenidoğanı (grup 1) 160 doğal yolla olan yenidoğanla (grup 2) karşılaştırmaktadır. Her iki gruptaki yenidoğanlar, gebelik ve yenidoğan yaşı açısından eşleştirilmiş sezaryen ile doğan yenidoğanlardı. Yenidoğanlar üç-yedi günlük idi, 37-39 hafta ve 6 günlük tam dönem gebelik yaşına sahipti ve yenidoğanların doğum ağırlığı normal sınırlarda (2500-4000 g) idi. Sistolik pulmoner arter basıncı (SPAB), triküspit yetersizlik jetinin pik akış hızını temel alan gerçek zamanlı ekokardiyografi kullanılarak tahmin edildi. Bulgular: İki grup arasındaki ortalama SPAB açısından anlamlı bir fark gözlendi (p<0,001). Her ne kadar gestasyonel yaşın SPAB'yi düşürücü etkisi grup 1'de daha fazla ve istatistiksel olarak anlamlı olsa da, doğumdan sonra PAB'de kademeli azalma bu grupta daha yavaş gözlenmiştir. Ayrıca, her iki grupta da gebelik yaşının SPAB'yi düşürücü etkisi yenidoğan yaşına göre daha belirgindi. Ayrıca, her iki grupta da SPAB ile yenidoğan ağırlığı arasında anlamlı bir ters korelasyon gözlendi; ancak bu korelasyonun grup 1'de daha kuvvetli olduğu görüldü. Sonuç: Çalışmamız, İVF'yi yenidoğanlarda pulmoner hipertansiyon insidansında artış ile ilişkili bulmuştur. Bu nedenle, İVF yenidoğanlarında pulmoner

Introductionβ-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of β-thalassemia and hemoglobinopathies in Adana, which is one of the biggest cities located in the southern part of Turkey.Material and methodsData from 3000 individuals admitted to Seyhan Hereditary Blood Disorders Center in Adana were evaluated. The blood samples were collected into EDTA-containing tubes and hematological parameters were analyzed using an automatic cell counter. High performance liquid chromatography technique was used to determine the type of hemoglobin. Molecular screening of the β-globin gene was performed with β-Globin StripAssay.ResultsOf 3000 cases, 609 were diagnosed as β-thalassemia or hemoglobinopathy. We have found that the rates of occurrence of β-thalassemia and hemoglobinopathies are 13.46% and 6.83% respectively in this area. We have identified 18 different β-thalassemia mutations and three separate abnormal hemoglobins: HbS, HbD Los Angeles, and HbE. In molecular analyses, β-thalassemia gene mutations of IVSI.110 (G > A), codon 8 (–AA), IVSI.1 (G > A), IVSI.6 (T > C), –30 (T > A), IVSII.1 (G > A), codon 39 (C > T), codon 44 (–C), IVSI.5 (G > C), codon 5 (–CT), codon 8/9 (+G), IVSII.745 (C > G), codon 22 (7bp del), –101(C > T), codon 36/37 (–T), IVSI.15 (T > G), codon 6 (–A), –88 (G > A) were detected.ConclusionsConsidering the high incidence of mutations that we have found, β-thalassemia and hemoglobinopathies still seem to be a public health problem in Adana.

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IntroductionThe frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.Material and methodsWe studied the association between the β-globin gene and α-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique.ResultsWe evaluated 36 adult subjects (28 female and 8 male; age range: 18-52 years) with concomitant mutations in their α- and β-globin genes. The –α3.7/αα deletion was the commonest defect in the α-chain as expected, followed by α3.7/–α3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting α-thalassemia, while seven Hb S/S patients had concurrent mutations in their α-genes. The coexistence of αPolyA-2α/αα with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for β-globin chain (–α3.7/αα with IVSI.110/S), and also a case who had –α3.7/αα deletion with IVSI.110/A.ConclusionsAlthough limited, our data suggest that it would be valuable to study coexisting α-globin mutations in subjects with sickle cell disease or β-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies.

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