The Italian Pediatric Survey On Hereditary Spherocytosis

Purpose. Since 1990 the Italian Association of Pediatric Hematology and Oncology (AIEOP) conducted a survey to better define genetic and clinical data on HS during infancy and childhood. Patients and Methods. Twenty seven pediatric hospitals participated in the survey. Each center received a questionnaire asking about several genetic, clinical and laboratory features of HS patients. Results. 468 cases of HS were enrolled in the study. They included 263 males and 205 females, from 392 kindreds. An autosomal dominant pattern of inheritance was observed in 74% of families, whereas the remaining cases were examples of not-dominant inheritance (recessive or de-novo mutation). 247 subjects (65%) had symptoms attributable to HS during the neonatal period: jaundice was present in 229 subjects (60%), anemia in 109 cases (27,5%) and splenomegaly in 21 cases (5,5%). 68 newborns (17%) were given at least one blood transfusion during the first days of life, whereas 247 (53%) subjects received red blood cell transfusions after the neonatal period. 32% of all transfused patients required one red blood cell transfusion only while 11% of them needed more than 11 transfusions. Splenectomy was performed in 180 cases; in all but two patients it was curative of the anemia. Gallstones were reported in 79 patients and aplastic crises in 17 (none was splenectomized): in 5 cases the aplastic crisis was the first clue to diagnosis of HS. Conclusions. 65% of HS subjects become symptomatic but only 30% are diagnosed during the neonatal period; a more careful evaluation of anemia and/or icterus during the neonatal period could allow a more precocious diagnosis of HS in some