Epistemology and b-Thalassemia

Francesca Vardeu

Abstract


In This Work The Author Examines the Epistemological Pathway to the Study,Diagnosis and Therapy of b.Thalassemia,serious and Very Frequent Genetic Disease in The Italian and Sardinian population Known to Paediatricians Since 1925. The Author Critically Explores Yhe Historical Approaches to the Comprehension of the Disease, The Phenotype Characteristics,firstly described in Italy in 1929, and it's Familiarity , also described from Several Authors in the Same Years. The Frequency and the Variability of the disease in the Population Were Poorly Understood,Partly Because Haematology was Still Under Development and Partly for the Presence in The Patients and in the General Population of Confounding Symptoms and Diseases. The Hereditary Trasmission According to Mendelian Laws was Aplied Only to the Study of Few Phenotype Characteristics,such as the Facieas and Other Easily Identifiable Bone Abnormalities, In The Attempt to Limit the Familiar Trasmission from the Long Surviving Patients. For over 15 Years The Disease was Considered Lethal and There were no Studies on the Real Efficay of the Available Treatments.

 

Key words: Mediterranean Anemia - Microcitosis - Eugenetics - Genetic information 


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