Band 3 nullVIENNA,a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia,dyserythropoiesis and complete distal renal tubular acidosis |
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| Authors: | Petra Zeitlhofer Joanna F. Flatt Tabita M. Maia M. Leticia Ribeiro Bernhard Fahrner Gerhard Fritsch Kaan Boztug Oskar A. Haas |
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| Affiliation: | 1. medgen.at GmbH, Vienna, Austria;2. NHS Blood and Transplant, Bristol Institute for Transfusion Sciences, Bristol, UK;3. Servi?o de Hematologia, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal;4. Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria;5. Children's Cancer Research Institute Vienna, Vienna, Austria;6. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria |
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| 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. |
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| Keywords: | hematology hemolytic anemias molecular genetics nonmalignant red blood cell disorders |
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