Natural history of hereditary spherocytosis during the first year of life

Although hereditary spherocytosis (HS) is a common disorder of the red cell membrane, its clinical and biologic expression at birth and in early infan cy has received little attention. In order to obtain insights into the natu ral history of HS during infancy, we studied 46 neonates, 39 from families in which 1 of the parents had previously been given a diagnosis of HS and 7 presenting with nonimmune hemolytic anemia and no family history of HS. Of these 46 neonates, 23 were subsequently confirmed to have HS and 23 were f ound to be healthy. The hematologic and biologic analyses carried out in th is cohort of 46 newborns enabled us to develop guidelines for early diagnos is of HS. A careful clinical follow-up of 34 HS patients during the-first y ear of life allowed us to define several important clinical features of HS during this period. Hemoglobin values are usually normal at birth but decre ase sharply during the subsequent 20 days, which leads, in many cases, to a transient and severe anemia. The anemia is severe enough to warrant blood transfusions in a large number of infants with HS (26 of 34 in our series). The aggravation of anemia appears to be related to the inability of these infants to mount an appropriate erythropoietic response to anemia and to th e development of splenic filtering function. These findings indicate that c areful monitoring of infants with HS during the first 6 months of life is i mportant for appropriate clinical management. (Blood, 2000;95:393-397) (C) 2000 by The American Society of Hematology.