Sickle cell anemia, sickle cell β-thalassemia, and thalassemia major in Albania: characterization of mutations

✍ Scribed by Enis Boletini; Martina Svobodova; Vladimir Divoky; Erol Baysal; Mehmet A. Cürük; Aleksandar J. Dimovski; Rong Liang; Adekunle D. Adekile; Titus H. J. Huisman

• Publisher: Springer
• Year: 1994
• Tongue: English
• Weight: 569 KB
• Volume: 93
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00210607

✦ Synopsis

We have analyzed the hemoglobin abnormalities in nearly 50 Albanian patients with a significant hemoglobinopathy and included 37 relatives in this study. Sickle cell anemia (SS) is a common disorder; all 15 sickle cell anemia patients had the complications expected for this disease. The beta S haplotype was type 19 (Benin); alpha-thalassemia-2 was rare. Three beta-thalassemia alleles (IVS-I-110, G-->A; codon 39, C-->T; IVS-I-6, T-->C) were present in nearly 85% of the beta-thalassemia alleles; their frequencies were intermediate between those observed in the populations of neighboring countries. A few rare mutations were also found, which might have originated in India, Turkey, Macedonia, and Greece. Nearly all patients with Hb S-beta-thalassemia had the IVS-I-110 (G-->A) mutation. The frequencies of 11 beta-thalassemia mutations in 17 mostly Mediterranean countries have been reviewed.