GENETIC HETEROGENEITY OF β-THALASSEMIA AT ÇUKUROVA IN SOUTHERN TURKEY

• Published in: Hemoglobin 2001-01, Vol.25 (2), p.241-245
• Main Authors: Çürük, M. Akif, Arpaci, Abdullah, Attila, Gülen, Tuli, Abdullah, KilinÇ, Yurdanur, Aksoy, K´ymet, Yüre ir, Gune T.
• Format: Article
• Language: English
• Subjects: beta-Thalassemia - diagnosis; beta-Thalassemia - epidemiology; beta-Thalassemia - genetics; DNA Mutational Analysis; Female; Gene Frequency; Genetic Heterogeneity; Genetic Testing; Humans; Male; Mutation; Pregnancy; Prenatal Diagnosis; Turkey - epidemiology
• ISSN: 0363-0269; 1532-432X
• DOI: 10.1081/HEM-100104032

β-Thalassemia is the most common genetic abnormality causing health problems worldwide.Ç ukurova, in the southern part of Turkey, being on the Mediterranean, is in the thalassemic belt. Since there is no cure for the disease at present, the frequency of the mutation types of β-thalassemia must first be identified to aid in clinical follow-up and prenatal diagnosis. Carriers identified during a screening survey and patients referred to our laboratory were studied for this purpose. After routine hematological analysis molecular screening was performed by the amplification refractory mutation system and DNA sequencing. The frequency of the common mutations were: IVS-I-110 (G→A) 57.3%, IVS-I-1 (G→A) 8.3%, codon 39 (C→T) 6.4%, IVS-I-6 (T→C) 5.7%, frameshift codon 8 (-AA) 5.7%, -30 (T→A) 4.7%, IVS-II-1 (G→A) 3.4%, IVS-II-745 (G→C) 2.8%, and frameshift codon 5 (-CT) 1.1%. Some rare mutations (1%) such as frameshift codon 44 (-C) 0.7%, frameshift codons 74 75 (-C) 0.7%, IVS-I-5 (G→C) 0.7%, frameshift codons 8 9 (+G) 0.4%, frameshift codons 36 37 (-T) 0.4%, frameshift codons 22 23 24 (-AAGTTGG) 0.4%, IVS-I-130 (G→C) 0.4%, IVS-I-5 (G→T) 0.2%, -28 (A→C) 0.2%, codon 15 (TGG→TGA) 0.2%, and frameshift codons 82 83 (-G) 0.2%, were detected by sequence analysis. The codon 15 (TGG→TGA) and frameshift codons 82 83 (-G) mutations were seen in Turkey for the first time.