Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III

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dc.contributor.authorBracher N.A.
dc.contributor.authorLyons C.A.
dc.contributor.authorWessels G.
dc.contributor.authorMansvelt E.
dc.contributor.authorCoetzer T.L.
dc.date.accessioned2011-05-15T16:15:47Z
dc.date.available2011-05-15T16:15:47Z
dc.date.issued2001
dc.description.abstractHereditary spherocytosis (HS) is an inherited haemolytic anaemia, characterized by spheroidal, osmotically fragile red blood cells. This disorder exhibits heterogeneity in terms of both clinical severity and underlying molecular defect. We have studied a South African Cape Coloured individual with severe HS owing to a band 3 deficiency caused by two mutations, occurring in trans, in the band 3 gene: a novel variant that we have designated band 3 Cape Town and a previously described mutation, band 3 Prague III. Analysis of erythrocyte membrane proteins indicated a deficiency of both band 3 and protein 4.2, as well as a decreased functional capacity of band 3 to transport anions. Band 3 Cape Town is defined by a GAG→AAG point mutation at codon 90, substituting a glutamic acid with a lysine in the cytoplasmic domain of the molecule, while band 3 Prague III is a codon 870 CGG→TGG point mutation, replacing an arginine with a tryptophan in the transmembrane region of band 3. mRNA is transcribed from both mutant alleles, implying that mutant proteins are synthesized, but are either degraded prior to membrane incorporation or insertion is impaired. We conclude that the combination of these two mutations exacerbated the clinical presentation of the proband.
dc.description.versionArticle
dc.identifier.citationBritish Journal of Haematology
dc.identifier.citation113
dc.identifier.citation3
dc.identifier.issn00071048
dc.identifier.other10.1046/j.1365-2141.2001.02800.x
dc.identifier.urihttp://hdl.handle.net/10019.1/13486
dc.subjectDNA
dc.subjecterythrocyte band 3 protein
dc.subjectRNA
dc.subjectarticle
dc.subjectcase report
dc.subjectclinical feature
dc.subjectDNA determination
dc.subjectfemale
dc.subjectgenetic heterogeneity
dc.subjecthemolytic anemia
dc.subjecthereditary spherocytosis
dc.subjecthuman
dc.subjectnewborn
dc.subjectpathogenesis
dc.subjectpoint mutation
dc.subjectpriority journal
dc.subjectprotein analysis
dc.subjectRNA analysis
dc.subjectAlleles
dc.subjectAnion Exchange Protein 1, Erythrocyte
dc.subjectFemale
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectInfant
dc.subjectPoint Mutation
dc.subjectPolymerase Chain Reaction
dc.subjectPolymorphism, Single-Stranded Conformational
dc.subjectRNA, Messenger
dc.subjectSpherocytosis, Hereditary
dc.titleBand 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III
dc.typeArticle
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