The history of beta thalassaemia in sardinia: The contribution of the italian schools of pediatrics

Abstract

Beta thalassaemia represents one of the most common autosomal recessive disorders worldwide. High prevalence is present in the Mediterranean, Middle East and Far East. The highest incidences are reported in Cyprus, South East Asia and Sardinia and are most likely related to the selective pressure from Pl. falciparum, the causative agent of malaria. In Sardinia, because of the health relevance of beta thalassaemia and haemoglobinopathies and after the publication of the first scientific research on Cooley’s anaemia, important Schools of Paediatrics and Clinical Genetics have been set up, which have contributed to defining diagnostic criteria, therapeutic and preventive measures (especially, newborn screen-ing). The aim of the present study is to examine the results of the first scientific research made by the Sardinian Schools of Paediatrics and Clinical Genetics, from 1929 to 1957.