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

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 implication...

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Bibliographic Details
Published in:Pediatric blood & cancer 2017-03, Vol.64 (3), p.n/a
Main Authors: Kager, Leo, Bruce, Lesley J., Zeitlhofer, Petra, Flatt, Joanna F., Maia, Tabita M., Ribeiro, M. Leticia, Fahrner, Bernhard, Fritsch, Gerhard, Boztug, Kaan, Haas, Oskar A.
Format: Article
Language:English
Subjects:
Anemia
Hematology
hemolytic anemias
molecular genetics
nonmalignant
Oncology
Pediatrics
red blood cell disorders
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Summary: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.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.26227