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Blood, 15 August 2000, Vol. 96, No. 4, pp. 1602-1604
BRIEF REPORT
Severe hereditary spherocytosis and distal renal tubular acidosis
associated with the total absence of band 3
Maria Letícia Ribeiro,
Nicole Alloisio,
Helena Almeida,
Clara Gomes,
Pascale Texier,
Carlos Lemos,
Gabriela Mimoso,
Laurette Morlé,
Faïza Bey-Cabet,
René-Charles Rudigoz,
Jean Delaunay, and
Gabriel Tamagnini
From Unidade de Hematologia Molecular, Serviço de
Hematologia, Centro Hospitalar de Coimbra, Coimbra, Portugal;
Laboratoire de Génétique Humaine, CNRS URA 1171, and Centre
de Génétique Moléculaire et Cellulaire, CNRS UMR
5534, Villeurbanne, France; Unidade de Nefrologia, Hospital
Pediátrico de Coimbra, Coimbra, Portugal; Maternidade Bissaya
Barreto, Centro Hospitalar de Coimbra, Coimbra, Portugal; Service de
Biochimie, Hôpital Debrousse, Lyon, France; Service
d'Obstétrique, Hôpital de la Croix-Rousse, Lyon, France.
Absence of band 3, associated with the mutation Coimbra (V488M) in
the homozygous state, caused severe hereditary spherocytosis in a young
child. Although prenatal testing was made available to the parents, it
was declined. Because the fetus stopped moving near term, an emergency
cesarean section was performed and a severely anemic, hydropic female
baby was delivered. She was resuscitated and initially kept alive with
respiratory assistance and hypertransfusion therapy. Cord blood smears
revealed erythroblastosis, poikilocytosis, and red cells with
stalk-like elongations. Band 3 and protein 4.2 were absent; spectrin,
ankyrin, and glycophorin A were significantly reduced. Renal tubular
acidosis was detected by the age of 3 months. Nephrocalcinosis appeared
soon thereafter. After 3 years of follow-up the child is doing
reasonably well on a regimen that includes regular blood transfusions
and daily bicarbonate supplements. The long-term prognosis remains
uncertain given the potential for hematologic and renal complications.
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