Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis

Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26227. Epub 2016 Oct 8.

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 nullCOIMBRA patient, 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 nullVIENNA patient, 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.

Keywords: hematology; hemolytic anemias; molecular genetics; nonmalignant; red blood cell disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / etiology*
  • Acidosis, Renal Tubular / pathology
  • Anemia, Hemolytic / etiology*
  • Anemia, Hemolytic / pathology
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Child, Preschool
  • Codon, Nonsense / genetics*
  • Erythrocytes, Abnormal / pathology*
  • Erythropoiesis
  • Homozygote
  • Humans
  • Male
  • Prognosis

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • Codon, Nonsense
  • SLC4A1 protein, human