Τόμος 4 (1986) – Τεύχος 3 – Άρθρο 2 – Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Ελληνική Έκδοση – Volume 4 (1986) – Issue 3 – Article 2 – Epitheorese Klinikes Farmakologias και Farmakokinetikes-Greek Edition

Review on the Molecular Genetics of Thalassemias

C. TROUNGOS

4: 81-94 (1986)

PHARMAKON-Press: Epitheorese Klin. Farmakol. Farmakokinet.

4: 81-94 (1986)

Thalassemias are inherited diseases causing the reduction of the synthesis of one or more globin chains. This reduction can be partial or total since the molecular deficiencies, leading to a thalassemia syndro­me, are heterogenous. Thalassemias constitute a rare group of “natural” models which per­mit the study of the regulation of hemoglobin synthesis as well, as the molecular defects which inhibit it. Thanks to the continuous study of this model we have come to understand a lot about the mechanism of globin gene expres­sion at least more than about any other eukaryotic cell. This review article is an attempt to present, briefly, all the knowledge on thalas­semia acquired during the last decades. Em­phasis has been placed on the actual informa­tion, offered by molecular biology, concerning the structure and the organization of both glo­bin gene families and their expression. Α clas­sification of the several thalassemia types, ac­cording to the molecular deficiencies giving rise to them and the stages where the protein synthesis is inhibited, has also been attempted. Finally, the technique for the study of DNA polymorphisms, aiming at the indirect localiza­tion of mutations along the globins locus, has been analyzed and the application of these techniques that permit antenatal diagnosis is also been mentioned.

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