"Silent" beta-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A(2)
TURKISH JOURNAL OF PEDIATRICS, cilt.58, sa.3, ss.305-308, 2016 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 58 Sayı: 3
- Basım Tarihi: 2016
- Doi Numarası: 10.24953/turkjped.2016.03.013
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.305-308
- Anahtar Kelimeler: beta-thalassemia mutation (promoter nt-101 C > T), increased hemoglobin A2, Turkish family, GLOBIN GENE, SUBSTITUTION, INTERMEDIA
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Gazi Üniversitesi Adresli: Evet
Özet
One of the most common silent beta-thalassemia mutations is the C > T substitution at position - 101 within the distal CACCC box, which leads to a mild reduction in the expression level of the beta-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and borderline hemoglobin A2 values, and may be missed during screening. Co-occurrence of this mutation with one of the classical beta-thalassemia mutations leads to beta-thalassemia intermedia, and this is important for Mediterranean populations where beta-thalassemia is frequent. Awareness of this mutation, which may have a heterogeneous clinical presentation, is required. We herein present the unusual hematologic findings of a Turkish family carrying this mutation.