[Genetic observations on hereditary spherocytosis in some family groups in a region of Mantova north of the Po and/in the province of Parma].
Hereditary spherocytosis is an haemolitic disease, generally characterized by anaemia, jaundice, and splenomegaly. With reference to data collected in the territory of Quistello, in the Province of Mantova and in the Hospital of the City of Parma, about 280 persons were examined, belonging to the families most affected by hereditary spherocytosis. The results support the hypothesis that the disease is due to an autosomic dominant gene with an almost complete penetrance (0.9). No significant decrease in fitness, measured as a function of fertility, was observed, nor was it possible, from the data examined, to evaluate any correlation between presence of the disease and cases of abortion or perinatal mortality. It is worthy of note that all the observed cases pertain to families that are distributed along the course of the Po River. A biochemical enquiry, based upon an evaluation of the differences in protein composition between the membranes of spherocytes and normal eritrocytes, by electrophoresis on gel of polyacrylamide, gave contrasting results.
D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D013103:Spherocytosis, Hereditary / Q000453:epidemiology / Q000235:genetics*
Osservazioni genetiche sulla sferocitosi ereditaria in alcuni gruppi familiari dell-Oltrepo Mantovano e della provincia di Parma