Preliminary communication
https://doi.org/10.31952/amha.17.1.4
THE HISTORY OF BETA THALASSAEMIA IN SARDINIA: THE CONTRIBUTION OF THE ITALIAN SCHOOLS OF PEDIATRICS
Mariano Martini
; Department of Health Sciences – Section of Medical Humanities and Ethics, University of Genoa Italy; UNESCO CHAIR “Anthropology of Health – Biosphere and Healing System”, University of Genoa, Genoa.
Cristina Tornali
; Department of Biomedical and Biotechnological Sciences, University of Catania, Italy.
Nicola Luigi Bragazzi
; Department of Health Sciences, University of Genoa, Italy.
Filippo Paluan
; Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Italy.
Maria Francesca Vardeu
; ATS Sardegna – Azienda Tutela Salute (ASSL Cagliari), Cagliari, Italy.
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 screening).
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.
Keywords
History of medicine; beta thalassaemia; paediatrics; Sardinia
Hrčak ID:
223254
URI
Publication date:
1.7.2019.
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