The Genetics and Prevalance of Thalessemia

Thalassemia is a disorder of haemoglobin synthesis which is characterized by the absence or reduced synthesis of globin chains. Most frequently, this disorder is found in the malarial, tropical and sub-tropical regions of Mediterranean countries, the Middle East, Transcaucasus, Central Asia, the Indian Subcontinent (South Asia) and Southeast Asia. The two main types of thalassemia are and beta-thalassemia. beta-thalassemia a common genetic disorder caused by mutations in one or more of the beta-globin gene loci that result in reduced beta-globin production. Recently, more than 200 different mutations have been detected affecting the diverse levels of beta -globin gene expression and cause beta-thalassaemia. This book explores the different mutations causing beta thalassemia and the geographical distribution and racial origin.

Autorentext

Obecne stanowisko: adiunkt, Wydziä Biotechnologii, Uniwersytet Kobiecy im. Matki Teresy. Specjalizacja: genomika medyczna, immunogenetyka, genomika populacyjna. Publikacje: ponad 25 publikacji w recenzowanych czasopismach mi dzynarodowych. Prezentacje: ponad 50 prezentacji referatów na konferencjach krajowych i mi dzynarodowych.