SURVEY OF SICKLE-CELL DISEASE IN ITALY

Background and Objective. The present study was designed to determine the distribution and severity of sickle cell disease (SCD) in Italy. D esign and Methods. A questionnaire, requesting information about the c ases of sickle cell disease that had been seen during previous years, was sent to all Italian centers of Pediatrics and Hematology. The ques tionnaire was simple and required personal, hematologic and clinical i nformation. Results. A total of 696 cases were reported. The distribut ion of registered patients shows that, although the S gene originated mostly in Sicily and Southern Italy, 20% of patients with SCD now live in Central and Northern Italy. The types of SCD reported were as foll ows: compound heterozygotes HbS-beta thalassemia, (S-Th, 518 cases); h omozygotes for HbS, (SS, 149 cases); compound heterozygotes HbS and an other abnormal hemoglobin (21 cases). The population of patients with SCD is younger than the general Italian population. More than 90% of p atients have had no crises or only a limited number, namely, up to 6/y ear. Infections ranged between 0 and 6/year. Splenomegaly was reported in 28% and 80% of adult patients with SS and S-Th, respectively. The prevalence of gallstones was 48%. Interpretation and Conclusions. The survey established that 1) sickle cell disease is widely distributed i n Italy; 2) while the clinical spectrum is extremely variable, severe forms are infrequent. (C) 1998, Ferrata Storti Foundation.