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

Autor: Boletini, Enis, Svobodova, Martina, Divoky, Vladimir, Baysal, Erol, Cürük, Mehmet, Dimovski, Aleksandar, Liang, Rong, Adekile, Adekunle, Huisman, Titus
Zdroj: Human Genetics; 1994, Vol. 93 Issue 2, p182-187, 6p
Abstrakt: 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 β haplotype was type 19 (Benin); α-thalassemia-2 was rare. Three β-thalassemia alleles (IVS-I-110, G→A; codon 39, C→T; IVS-I-6, T→C) were present in nearly 85% of the β-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-β-thalassemia had the IVS-I-110 (G→A) mutation. The frequencies of 11 β-thalassemia mutations in 17 mostly Mediterranean countries have been reviewed. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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