Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

Absence of band 3, associated with the mutation Coimbra (V488M) in the homo zygous state, caused severe hereditary spherocytosis in a young child. Alth ough prenatal testing was made available to the parents, it was declined. B ecause the fetus stopped moving near term, an emergency cesarean section wa s performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and h ypertransfusion therapy. Cord blood smears revealed erythroblastosis, poiki locytosis, and red cells with stalk-like elongations. Band and protein 4.2 were absent; spectrin, ankyrin, and glycophorin A were significantly reduce d. Renal tubular acidosis was detected by the age of 3 months. Nephrocalcin osis appeared soon thereafter. After 3 years of follow-up the child is doin g reasonably well on a regimen that includes regular blood transfusions and daily bicarbonate supplements. The long-term prognosis remains uncertain g iven the potential for hematologic and renal complications. (Blood, 2000; 9 6:1602-1604) (C) 2000 by The American Society of Hematology.