Makale detayı · 2010
Molecular Characterization of Thalassemia in Adana Turkey A Single Center Study
- Yıl
- 2010
- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- YÖKSİS dergi adı Acta Haematologica
- Katalog eşleşmesi (ISSN) Acta Haematologica
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
OpenAlex · İngilizce
BACKGROUND/AIM: alpha-Thalassemia (alpha-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the alpha-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 alpha-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 alpha-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 alpha-thal and found that the prevalence of alpha-thal is 7.5% in this area. In molecular analyses, the alpha-thal gene mutations alpha(3.7), alpha(4.2), --(MED), --(20.5), alpha(PA-2)alpha, alphaalphaalpha(anti-3.7), and alpha(PA-1)alpha were detected. CONCLUSION: Our results showed that the alpha-thal mutations represent a great heterogeneity and that the -alpha(3.7) deletion has the highest frequency in Adana.
Konular
Atıflar
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31 atıf
OpenAlex cited_by_count (önbellek / veritabanı)
Yerel katalogda bu makaleye atıf yapan 38 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).
- SPECTRUM OF THALASSEMIA MUTATIONS INCLUDING FIRST OBSERVATION OF FIL DELETION IN HATAY PROVINCE TURKEY 2013
- Spectrum of thalassemia mutations including first observation of FIL deletion in Hatay Province Turkey 2013
- Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective 2015
- Alpha Thalassemia Mutations in Adana Province Southern Turkey Genotype Phenotype Correlation 2015
- Alpha Thalassemia Mutations in Adana Province Southern Turkey Genotype Phenotype Correlation 2015
- Alpha thalassemia mutations in Adana province, Southern Turkey:Genotype-phenotype correlation 2015
- Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective 2015
- Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective 2015
- Evaluation of Alpha Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia The İstanbul Perspective 2014
- Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population 2015