Martini Mariano, Tornali Cristina, Bragazzi Nicola Luigi, Paluan Filippo, Vardeu Maria Francesca
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
Department of Biomedical and Biotechnological Sciences, University of Catania, Italy
Acta Med Hist Adriat. 2019 Jul 1;17(1):65-90. doi: 10.31952/amha.17.1.4.
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.
β地中海贫血是全球最常见的常染色体隐性疾病之一。在地中海地区、中东和远东地区发病率很高。据报道，塞浦路斯、东南亚和撒丁岛的发病率最高，这很可能与疟疾病原体恶性疟原虫的选择压力有关。在撒丁岛，由于β地中海贫血和血红蛋白病与健康密切相关，且在关于库利贫血的第一项科学研究发表后，重要的儿科学和临床遗传学流派纷纷建立，这些流派为确定诊断标准、治疗和预防措施（尤其是新生儿筛查）做出了贡献。本研究的目的是检验撒丁岛儿科学和临床遗传学流派在1929年至1957年间进行的第一项科学研究的结果。
