Blood, Vol. 95 No. 2 (January 15), 2000:
pp. 393-397
Natural history of hereditary spherocytosis during the first year
of life
F. Delhommeau,
T. Cynober,
P. O. Schischmanoff,
P. Rohrlich,
J. Delaunay,
N. Mohandas, and
G. Tchernia
From the Laboratoires d'Hématologie et de Biochimie,
Hôpital Bicêtre, Assistance Publique
Hôpitaux de
Paris, et Faculté de Médecine Paris XI, Le
Kremlin-Bicêtre; Service de Pédiatrie Hématologique,
Hôpital R. Debré, Assistance PubliqueHôpitaux de
Paris, Paris; and Lawrence Berkeley National Laboratory, Berkeley, CA.
Although hereditary spherocytosis (HS) is a common disorder of the
red cell membrane, its clinical and biologic expression at birth and in
early infancy has received little attention. In order to obtain
insights into the natural 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 found to be
healthy. The hematologic and biologic analyses carried out in this
cohort of 46 newborns enabled us to develop guidelines for early
diagnosis of HS. A careful clinical follow-up of 34 HS patients during
the first year of life allowed us to define several important clinical
features of HS during this period. Hemoglobin values are usually normal
at birth but decrease 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 the development
of splenic filtering function. These findings indicate that careful
monitoring of infants with HS during the first 6 months of life is
important for appropriate clinical management.
