{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:17:20Z","timestamp":1787847440614,"version":"build-2784847793"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The present case series describes two male children of 5 months and 11 months old, having diabetes mellitus and megaloblastic anemia, but with no syndromic symptoms or organ involvement. The patient\u2019s clinical history prompted a targeted sequencing of the genes associated with monogenic diabetes. In first case, mutation in SLC19A2 gene (variant \u2013 c.391dupT [P.Tyr131leufs*8]), where a homozygous insertion of one base pair (bp) in exon 2 of SLC19A2 gene[c.391dupT] was found, resulted in shift of reading frame and termination of the protein chain downstream to codon 131 [p.Tyr131 LeufsTer8]. In the second case, of mutation in SLC19A2 gene (variant- c. 1002_1004del [p.Gly335del]), a homozygous deletion in exon 3 found. Both the patients were diagnosed with thiamine responsive megaloblastic anemia (TRMA). When patients present with diabetes mellitus, deafness, and megaloblastic anemia, the possibility of TRMA syndrome should be considered. This condition often responds to high-dose thiamine.<\/jats:p>","DOI":"10.4103\/abr.abr_16_24","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T11:00:10Z","timestamp":1780138810000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series"],"prefix":"10.4103","volume":"15","author":[{"given":"Reshma","family":"Roshan","sequence":"first","affiliation":[{"name":"Department of Clinical Hematology, SKIMS, Srinagar, Jammu and Kashmir, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masarat","family":"Mehboob","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Zulekha Hospital Sharjah, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Latif","sequence":"additional","affiliation":[{"name":"Department of Pathology, SKIMS, Srinagar, Jammu and Kashmir, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javid R.","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology, SKIMS, Srinagar, Jammu and Kashmir, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santosh G.","family":"Rathod","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology, SKIMS, Srinagar, Jammu and Kashmir, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,3]]},"reference":[{"key":"R1-20260530","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S0022-3476(69)80031-4","article-title":"Thiamine-responsive megaloblastic anemia","volume":"74","author":"Porter","year":"1969","journal-title":"J Pediatr"},{"key":"R2-20260530","doi-asserted-by":"crossref","first-page":"45","DOI":"10.4103\/jod.jod_51_18","article-title":"Thiamine-responsive megaloblastic anemia syndrome: A case report","volume":"11","author":"Patil","year":"2020","journal-title":"J Diabetol"},{"key":"R3-20260530","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.cca.2015.11.002","article-title":"Novel nonsense mutation (p. Ile411Metfs*12) in the SLC19A2 gene causing thiamine responsive megaloblastic anemia in an Indian patient","volume":"452","author":"Manimaran","year":"2016","journal-title":"Clin Chim Acta"},{"key":"R4-20260530","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/pbc.24849","article-title":"Thiamine responsive megaloblastic anemia: The puzzling phenotype","volume":"61","author":"Beshlawi","year":"2014","journal-title":"Pediatr Blood Cancer"},{"key":"R5-20260530","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1530\/eje.1.02305","article-title":"Thiamine transporter mutation: An example of monogenic diabetes mellitus","volume":"155","author":"Alzahrani","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"R6-20260530","first-page":"162","article-title":"Thiamine responsive megaloblastic anaemia complicated with acute Parvovirus infection: A case report","volume":"73","author":"Khaliq","year":"2023","journal-title":"J Pak Med Assoc"},{"key":"R7-20260530","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s13312-017-0993-6","article-title":"Neonatal diabetes: A case series","volume":"54","author":"Ganesh","year":"2017","journal-title":"Indian Pediatr"},{"key":"R8-20260530","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10162-006-0035-x","article-title":"Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype","volume":"7","author":"Liberman","year":"2006","journal-title":"J Assoc Res Otolaryngol"},{"key":"R9-20260530","first-page":"301","article-title":"Thiamine-responsive megaloblastic anemia: Early diagnosis may be effective in preventing deafness","volume":"51","author":"Onal","year":"2009","journal-title":"Turk J Pediatr"},{"key":"R10-20260530","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.jpeds.2009.06.017","article-title":"Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update","volume":"155","author":"Bergmann","year":"2009","journal-title":"J Pediatr"},{"key":"R11-20260530","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1515\/jpem-2016-0322","article-title":"Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation","volume":"30","author":"Potter","year":"2017","journal-title":"J Pediatr Endocrinol Metab"},{"key":"R12-20260530","first-page":"236","article-title":"Importance of immediate thiamine therapy in children with suspected thiamine-responsive megaloblastic anemia-report on two patients carrying a novel SLC19A2 gene mutation","volume":"11","author":"Spehar Uroic","year":"2020","journal-title":"J Pediatr Genet"}],"container-title":["Advanced Biomedical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/abr.abr_16_24","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T15:18:19Z","timestamp":1787843899000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/abr.abr_16_24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/abr.abr_16_24","relation":{},"ISSN":["2277-9175"],"issn-type":[{"value":"2277-9175","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"2024-01-10","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-21","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}