title: Band 3 nullVIENNA, a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.
abstract: We describe the second patient with anionic exchanger 1/band 3 null phenotype (band 3 nullVIENNA), which was caused by a novel nonsense mutation c.1430C>A (p.Ser477X) in exon 12 of SLC4A1. We also update on the previous band 3 nullCOIMBRApatient, thereby elucidating the physiological implications of total loss of AE1/band 3. Besides transfusion-dependent severe hemolytic anemia and complete distal renal tubular acidosis, dyserythropoiesis was identified in the band 3 nullVIENNApatient, suggesting a role for band 3 in erythropoiesis. Moreover, we also, for the first time, report that long-term survival is possible in band 3 null patients.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.|Children's Cancer Research Institute Vienna, Vienna, Austria.
authors.forename: Leo
authors.initials: L
authors.lastname: Kager
authors.affiliation: NHS Blood and Transplant, Bristol Institute for Transfusion Sciences, Bristol, UK.
authors.forename: Lesley J
authors.initials: LJ
authors.lastname: Bruce
authors.affiliation: medgen.at GmbH, Vienna, Austria.
authors.forename: Petra
authors.initials: P
authors.lastname: Zeitlhofer
authors.affiliation: NHS Blood and Transplant, Bristol Institute for Transfusion Sciences, Bristol, UK.
authors.forename: Joanna F
authors.initials: JF
authors.lastname: Flatt
authors.affiliation: Serviço de Hematologia, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
authors.forename: Tabita M
authors.initials: TM
authors.lastname: Maia
authors.affiliation: Serviço de Hematologia, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
authors.forename: M Leticia
authors.initials: ML
authors.lastname: Ribeiro
authors.affiliation: Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Fahrner
authors.affiliation: Children's Cancer Research Institute Vienna, Vienna, Austria.
authors.forename: Gerhard
authors.initials: G
authors.lastname: Fritsch
authors.affiliation: Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.|CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Kaan
authors.initials: K
authors.lastname: Boztug
authors.affiliation: Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.|Children's Cancer Research Institute Vienna, Vienna, Austria.
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
mesh_terms: D000141:Acidosis, Renal Tubular / Q000209:etiology* / Q000473:pathology; D000743:Anemia, Hemolytic / Q000209:etiology* / Q000473:pathology; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D004920:Erythropoiesis; D006720:Homozygote; D006801:Humans; D008297:Male; D011379:Prognosis
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D018389:Codon, Nonsense; C454201:SLC4A1 protein, human
keywords: hematology; hemolytic anemias; molecular genetics; nonmalignant; red blood cell disorders