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

dc.contributor.authorRibeiro, ML
dc.contributor.authorAlliosio, N
dc.contributor.authorAlmeida, H
dc.contributor.authorGomes, C
dc.contributor.authorTexier, P
dc.contributor.authorLemos, C
dc.contributor.authorMimoso, G
dc.contributor.authorMorlé, L
dc.contributor.authorBey-Cabet, F
dc.contributor.authorRudigoz, RC
dc.contributor.authorDelaunay, J
dc.contributor.authorTamagnini, G
dc.date.accessioned2012-06-20T10:18:20Z
dc.date.available2012-06-20T10:18:20Z
dc.date.issued2000
dc.description.abstractAbsence 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.por
dc.identifier.citationBlood. 2000;96(4):1602-4.por
dc.identifier.urihttp://hdl.handle.net/10400.4/1407
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherAmerican Society of Hematologypor
dc.subjectAcidose Tubular Renalpor
dc.subjectEsferocitose Hereditáriapor
dc.titleSevere hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3por
dc.typejournal article
dspace.entity.typePublication
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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