Review
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World J Methodol. Dec 26, 2014; 4(4): 197-218
Published online Dec 26, 2014. doi: 10.5662/wjm.v4.i4.197
Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases
Annita Kolnagou, Christina N Kontoghiorghe, George J Kontoghiorghes
Annita Kolnagou, Christina N Kontoghiorghe, George J Kontoghiorghes, Postgraduate Research Institute of Science, Technology, Environment and Medicine, Limassol 3021, Cyprus
Author contributions: Kolnagou A reviewed the organisational health structure of thalassaemia and Friedreich ataxia in Cyprus; Kontoghiorghe CN contributed the literature background on recent developments on thalassaemia and Friedreich ataxia and critically reviewed the clinical and other aspects of the manuscript; Kontoghiorghes GJ designed, wrote and edited the manuscript including the mechanisms of iron chelation therapy and iron metabolism and toxicity.
Correspondence to: George J Kontoghiorghes, PhD, Professor, Postgraduate Research Institute of Science, Technology, Environment and Medicine, 3 Ammochostou Street, Limassol 3021, Cyprus. kontoghiorghes.g.j@pri.ac.cy
Telephone: +35-72-6272076 Fax: +35-72-6272076
Received: May 25, 2014
Revised: September 24, 2014
Accepted: October 14, 2014
Published online: December 26, 2014
Core Tip

Core tip: Thalassaemia major (TM) and Friedreich’s ataxia (FA) are inherited diseases related to iron toxicity, with high morbidity and mortality rates. Cyprus has the highest frequency of TM and FA worldwide. Prenatal diagnosis and other health policies almost abolished the birth of TM and FA patients in Cyprus. Deferiprone has increased the survival and quality of life of TM patients, who are now reaching normal life expectancy and it is also promising for FA patients. Personalised treatments are proposed for TM and FA. The Cyprus experience can be used as a paradigm for the prevention and treatment of TM worldwide.