{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T19:23:01Z","timestamp":1787685781299,"version":"build-2784847793"},"reference-count":6,"publisher":"American Society of Hematology","issue":"26","license":[{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,12,25]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>We describe, to our knowledge, the first case of nicotinamide mononucleotide adenylyl transferase 3 (NMNAT3) deficiency, a novel red cell enzymopathy that causes reduced NAD levels and mild hemolytic anemia, which improved upon NAD precursor supplementation. We therefore propose testing for NMNAT3 variants in unexplained hereditary hemolytic anemia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1182\/blood.2025030958","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T19:22:01Z","timestamp":1760642521000},"page":"3246-3249","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":3,"title":["NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis"],"prefix":"10.1182","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3656-7718","authenticated-orcid":false,"given":"Titine J. J.","family":"Ruiter","sequence":"first","affiliation":[{"name":"1Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"},{"name":"2Red Blood Cell Research Group, Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0547-5470","authenticated-orcid":false,"given":"Brigitte A.","family":"van Oirschot","sequence":"additional","affiliation":[{"name":"2Red Blood Cell Research Group, Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2466-953X","authenticated-orcid":false,"given":"Esm\u00e9","family":"Waanders","sequence":"additional","affiliation":[{"name":"3Genome Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-9723","authenticated-orcid":false,"given":"Klaas","family":"Koop","sequence":"additional","affiliation":[{"name":"4Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2867-2581","authenticated-orcid":false,"given":"Wouter W.","family":"van Solinge","sequence":"additional","affiliation":[{"name":"2Red Blood Cell Research Group, Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8236-8292","authenticated-orcid":false,"given":"Richard","family":"van Wijk","sequence":"additional","affiliation":[{"name":"2Red Blood Cell Research Group, Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0960-6263","authenticated-orcid":false,"given":"Judith J. M.","family":"Jans","sequence":"additional","affiliation":[{"name":"1Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9685-1755","authenticated-orcid":false,"given":"Marije","family":"Bartels","sequence":"additional","affiliation":[{"name":"5Center for Benign Hematology, Thrombosis and Hemostasis, Van Creveld Clinic, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"3","key":"2025122511213704800_bib1","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/ijlh.12223","article-title":"Rare hereditary red blood cell enzymopathies associated with hemolytic anemia \u2013 pathophysiology, clinical aspects, and laboratory diagnosis","volume":"36","author":"Koralkova","year":"2014","journal-title":"Int J Lab Hematol"},{"issue":"13","key":"2025122511213704800_bib2","doi-asserted-by":"crossref","first-page":"4034","DOI":"10.1182\/blood-2005-04-1622","article-title":"The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis","volume":"106","author":"Van Wijk","year":"2005","journal-title":"Blood"},{"issue":"2","key":"2025122511213704800_bib3","doi-asserted-by":"crossref","first-page":"410","DOI":"10.2741\/3252","article-title":"The NMN\/NaMN adenylyltransferase (NMNAT) protein family","volume":"14","author":"Lau","year":"2009","journal-title":"Front Biosci"},{"issue":"1","key":"2025122511213704800_bib4","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.bcmd.2010.04.003","article-title":"Unique expression pattern of human nicotinamide mononucleotide adenylyltransferase isozymes in red blood cells","volume":"45","author":"Di Stefano","year":"2010","journal-title":"Blood Cells Mol Dis"},{"issue":"15","key":"2025122511213704800_bib5","doi-asserted-by":"crossref","first-page":"13503","DOI":"10.1074\/jbc.M300073200","article-title":"Structural characterization of a human cytosolic NMN\/NaMN adenylyltransferase and implication in human NAD biosynthesis","volume":"278","author":"Zhang","year":"2003","journal-title":"J Biol Chem"},{"issue":"21","key":"2025122511213704800_bib6","doi-asserted-by":"crossref","first-page":"14796","DOI":"10.1074\/jbc.M114.554378","article-title":"Deficiency of nicotinamide mononucleotide adenylyltransferase 3 (Nmnat3) causes hemolytic anemia by altering the glycolytic flow in mature erythrocytes","volume":"289","author":"Hikosaka","year":"2014","journal-title":"J Biol Chem"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/146\/26\/3246\/2477525\/blood_bld-2025-030958-main.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/146\/26\/3246\/2477525\/blood_bld-2025-030958-main.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T16:21:42Z","timestamp":1766679702000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/146\/26\/3246\/547828\/NMNAT3-deficiency-a-novel-red-blood-cell"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,25]]},"references-count":6,"journal-issue":{"issue":"26","published-print":{"date-parts":[[2025,12,25]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2025030958","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,12,25]]},"published":{"date-parts":[[2025,12,25]]}}}