Presentation of two new mutations in the 3′untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey

ARPACI A., Gul B. U., ÖZCAN O., Ilhan G., El Ç., DİRİCAN E., ...Daha Fazla

ANNALS OF HEMATOLOGY, sa.6, ss.1429-1438, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1007/s00277-021-04509-9
  • Dergi Adı: ANNALS OF HEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1429-1438
  • Anahtar Kelimeler: Hemoglobin indices, Hemoglobinopathy, New mutations, Prenatal diagnosis, Thalassemia
  • Hatay Mustafa Kemal Üniversitesi Adresli: Evet

Özet

Thalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as alpha and beta thalassemia, and then beta thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, beta(0), and beta(+). We have reached the family of the proband that analyzed their Hb indices and genetic mutation. All mutations were statistically compared with Hb indices, HbF, and HbA(2). We have identified two new beta thalassemia mutations that have the feature of not being defined previously [HBB:C*62 A>G. (3 ' UTR+1536 A>G) and HBB:C*1 G>A (3 ' UTR+1475 G>A)]. The most commonly encountered 23 mutations account for 74.7% of all mutations which is unlike the literature. In the beta thalassemia group, 73 different mutations were detected. The most common beta thalassemia mutation was HBB: c.93-21 G>A (IVS I-110 G>A) with a frequency of 19.72%. A statistically significant difference was found when comparing the mutation groups with Hb indices. We think that it may be useful to evaluate the mutations we have newly identified too together with the Hb indices especially in evaluating the carriers of thalassemia and it will contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly.