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

Author

De Angioletti M, Lacerra G, Boletinio E, Di Noce F, Musollino G, and Carestia C

Subjects
Albania epidemiology, Alleles, Genotype, Haplotypes genetics, Hemoglobinopathies epidemiology, Humans, Globins genetics, Hemoglobinopathies genetics
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.

Published
2002

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