title: Sickle cell anemia, sickle cell beta-thalassemia, and thalassemia major in Albania: characterization of mutations.
abstract: 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: E
authors.initials: E
authors.lastname: Boletini
authors.forename: M
authors.initials: M
authors.lastname: Svobodova
authors.forename: V
authors.initials: V
authors.lastname: Divoky
authors.forename: E
authors.initials: E
authors.lastname: Baysal
authors.forename: M A
authors.initials: MA
authors.lastname: Cürük
authors.forename: A J
authors.initials: AJ
authors.lastname: Dimovski
authors.forename: R
authors.initials: R
authors.lastname: Liang
authors.forename: A D
authors.initials: AD
authors.lastname: Adekile
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000293:Adolescent; D000328:Adult; D000415:Albania / Q000453:epidemiology; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008522:Mediterranean Sea; D009154:Mutation; D015345:Oligonucleotide Probes; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D015345:Oligonucleotide Probes