Beta- and alpha-globin genotypes in Albanian patients affected by beta-globin gene disorders

Abstract

We investigated the molecular basis of hemoglobinopathies and restriction fragment length polymorphism (RFLP) haplotypes in 58 unrelated Albanian patients. A wise heterogeneity was detected, characterized by 11 beta-thalassemia, 3 Hb variant and 4 alpha-globin alleles. All beta-thalassemia and Hb variant alleles were associated with the same haplotypes described in other populations. Genotype-phenotype correlation was established.