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Minerva Pediatrica 2013 February;65(1):111-9

Copyright © 2013 EDIZIONI MINERVA MEDICA

language: Italian

Macciotta’s disease and the biography of Giuseppe Macciotta

Farnetani F. 1, Farnetani I. 1, 2

1 Collaborators of the Istituto dell’Enciclopedia Italiana “Treccani”, Rome, Italy; 2 Department of Neuroscience, University of Milano-Bicocca, Milan, Italy


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Giuseppe Macciotta directed the Pediatric Clinic of Cagliari in Sardinia. He dedicated his work to the study of pathology present in Sardinia and the Mediteranean basin area, He identified a variant of the β thalassemia major (homozygote Cooley’s disease). He defined this variant as subchronic erythroblastosis, referred to by many as Macciotta’s disease. Subchronic erythroblastosis, whose symptoms include earlier onset and a more difficult course of illness, was characterized by appearance generally at the beginning of the second trimester of the baby’s life, and a course of illness between 5 and 10 months and a fatal outcome. The picture of the illness was dominated by hyperemolysis, erythroblastemia, medullar erythroblastosis and hyperbilirubinemia. The rapid course of the illness did not even allow time to damage the skeleton, and thus produced the formation of typical skeletal alterations and cardiomegalia. In the years which followed, transfusional and precocious and rational therapies were carried out which permitted the abeyance of the debilitating course of Macciotta’s disease. The symptomatology was interrupted before any picture of greater or lesser seriousness could be drawn.

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