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ALPHA- AND BETA-GLOBIN GENE MUTATIONS IN GEORGIA AND ARMENIA.
Oberkanins, C; Pagava, K; Babikyan, D; Korinteli, I A; Phagava, H; Hayrapetian, H; Kriegshäuser, G; Sarkisian, T.
Affiliation
  • Oberkanins C; 1ViennaLab Diagnostics, Vienna, Austria.
  • Pagava K; 2Tbilisi State Medical University, Department of Child & Adolescent Medicine, Georgia.
  • Babikyan D; 3Center of Medical Genetics and Primary Health Care, Yerevan, Armenia; 4Yerevan State Medical University, Department of Medical Genetics, Armenia.
  • Korinteli IA; 2Tbilisi State Medical University, Department of Child & Adolescent Medicine, Georgia.
  • Phagava H; 5Tbilisi State Medical University, Department of Epidemiology & Biostatistics, Georgia.
  • Hayrapetian H; 3Center of Medical Genetics and Primary Health Care, Yerevan, Armenia; 4Yerevan State Medical University, Department of Medical Genetics, Armenia.
  • Kriegshäuser G; 6IHR LABOR, Medical Diagnostic Laboratories, Vienna, Austria; 7Clinical Institute of Medical and Laboratory Diagnostics, Medical University of Graz, Graz, Austria.
  • Sarkisian T; 3Center of Medical Genetics and Primary Health Care, Yerevan, Armenia; 4Yerevan State Medical University, Department of Medical Genetics, Armenia.
Georgian Med News ; (318): 124-128, 2021 Sep.
Article in En | MEDLINE | ID: mdl-34628392
ABSTRACT
Georgia and Armenia are situated at the northern rim of the thalassemia belt and bordering to countries with a known high prevalence of thalassemias. In this study we assessed the carrier frequency and potential spectrum of alpha- and beta-globin mutations among 202 and 190 unselected Georgian and Armenian subjects, respectively. We found four alpha-globin mutations (-3.7del, -4.2del, anti-3.7 triplication, poly-A2) in 9 Armenians (4.74%) and 4 Georgians (1.78%). The heterozygous beta-globin codon 8 [-AA] mutation was detected in one individual from Armenia only. Overall, carrier frequencies seem to be low in both countries, supporting the notion that thalassemias are not a major health problem there.
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Database: MEDLINE Main subject: Thalassemia Type of study: Risk_factors_studies Limits: Humans Country/Region as subject: Europa Language: En Year: 2021 Type: Article
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PubMed Links

Database: MEDLINE Main subject: Thalassemia Type of study: Risk_factors_studies Limits: Humans Country/Region as subject: Europa Language: En Year: 2021 Type: Article