THALASSEMIAS AND OTHER HEMOGLOBINOPATHIES IN FORMER YUGOSLAVIA
Efremov GD
*Corresponding Author: Professor Dr. Georgi D. Efremov, Research Centre for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Bul. Krste Misirkov 2, POB 428, Skopje 1000, Republic of Macedonia; Tel.: +389-2-3235-411; Fax: +389-2-3115-434; E-mail: gde@manu.edu.mk, gdefremov@yahoo.com
page: 11

INTRODUCTION

 

The thalassemias and other hemoglobinopathies are the most common genetic disorders worldwide. It has been estimated that ~3% of the world’s population carry a β-thalassemia (β-thal) gene [1]. It is believed that malaria has exerted selective pressure for the propagation of the thalassemia genes, although the precise scientific basis for the proposed protection of the thalassemia heterozygotes against 12 malaria is unknown [2]. β-Thal has a high incidence in a broad tropical belt extending from the Mediterranean Basin through the Middle and Far East [3]. Migration has resulted in a notable increase of β-thal in Western European countries [4]. The hemoglobinopathies, also known as abnormal hemoglobins (Hbs), are classified according to the mutated gene (α, β, γ, δ and fusion genes), according to the clinical expression (Hb S syndrome, the unstable Hbs, variants with abnormal functions, Hb M variants, hyperunstable Hbs), and according to the location of the mutation (at the surface of the molecule, inside the molecule, between the heme and the globin chain, at the α1β1 contact and at the α1β2 contact). More than 900 different Hb variants have been characterized [5]. Here, I summarize our results on the epidemiology and molecular basis of thalassemias and other hemoglobinopathies in the populations of Former Yugoslavia.




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