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

Abstract

Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of α-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of α-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct α-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were -α3.7 (52.28 %), -(α)20.5 (14.74 %), --MED (10.53 %), and αPA-1α (8.77 %). Three α-thalassemia mutations (αcd142α, --SEA, and αICα), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of α-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches.

Retrospective Analysis of Alpha Globin Copy Number Variations Determined by Mlpa in the Trakya Region

“…The second most common deletion in our study was -α 20.5 with a ratio of 5.8%. This mutation has been rarely reported in Asia, the Middle East, and in Arab countries, but it was reported to be the second most frequent deletion in the studies conducted by Onay and Çürük et al (4,6). The −α 20.5 deletion was followed by theα MED andα SEA deletions with a frequency of 2.6% and 1.9%, respectively, in our study.…”

“…−α 3.7 or −α 4.2 deletions, resulting from unequal crossing Alpha globin copy number changes in Trakya İstanbul Tıp Fakültesi Dergisi • J Ist Faculty Med over in meiosis, causes deletional α + thalassemias and the most common cause has been reported as the -α 3.7 deletion (3). The frequency of -α 3.7 deletions was reported as 52.28% in the study performed by Onay et al in the Aegean Region of Turkey (4). In a study performed by Çelik et al in the southern region of Turkey, -α 3.7 deletion frequency was reported as 43.2% (10).…”