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

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.