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Thiamine-responsive megaloblastic anemia

MedGen UID:
488839
Concept ID:
C0271972
Disease or Syndrome
Synonym: Thiamine-responsive megaloblastic anaemia
SNOMED CT: Thiamine-responsive megaloblastic anemia (12907000)
 
HPO: HP:0004860

Definition

A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Thiamine-responsive megaloblastic anemia

Conditions with this feature

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
MedGen UID:
83338
Concept ID:
C0342287
Congenital Abnormality
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macrocytic and anemia can recur if treatment is withdrawn. Progressive sensorineural hearing loss often occurs early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence. Thiamine treatment may reduce insulin requirement and delay onset of diabetes in some individuals.

Professional guidelines

PubMed

Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, Mozzillo E
Ital J Pediatr 2023 Nov 30;49(1):158. doi: 10.1186/s13052-023-01553-1. PMID: 38037112Free PMC Article
Zhang S, Qiao Y, Wang Z, Zhuang J, Sun Y, Shang X, Li G
Clin Chim Acta 2021 May;516:157-168. Epub 2021 Feb 9 doi: 10.1016/j.cca.2021.01.025. PMID: 33571483

Recent clinical studies

Etiology

Zhang X, Qin YY, Ye Y, Lin FQ
Clin Lab 2023 Sep 1;69(9) doi: 10.7754/Clin.Lab.2023.230324. PMID: 37702666
Nayak S, Sarangi AN, Sahoo SK, Mangla P, Tripathy M, Rao S, Gupta S, Paliwal VK, Sudhanshu S, Ravi C, Joshi K, Bhatia V, Bhatia E
Indian J Pediatr 2021 Aug;88(8):785-792. Epub 2021 Jan 7 doi: 10.1007/s12098-020-03567-7. PMID: 33409956
Warncke K, Prinz N, Iotova V, Dunstheimer D, Datz N, Karges B, Jali MV, Linsenmeyer D, Olsen BS, Seiwald M, Prahalad P, de Sousa G, Pacaud D; SWEET and DPV Study Groups
Can J Diabetes 2021 Aug;45(6):539-545. Epub 2020 Nov 23 doi: 10.1016/j.jcjd.2020.11.006. PMID: 33388275
Lakshmanan NK, Pavithran PV, Bhavani N, Abraham N, Kumar H, Nair V, Menon U, Menon AS, Narayanan P, Lakshmi G
Pediatr Diabetes 2021 Feb;22(1):75-81. Epub 2020 May 31 doi: 10.1111/pedi.13040. PMID: 32418360
Beshlawi I, Al Zadjali S, Bashir W, Elshinawy M, Alrawas A, Wali Y
Pediatr Blood Cancer 2014 Mar;61(3):528-31. Epub 2013 Nov 19 doi: 10.1002/pbc.24849. PMID: 24249281

Diagnosis

Veetil VM, Pachat D, Nikitha K, Kutty JM
Natl Med J India 2023 Sep-Oct;36(5):314-315. doi: 10.25259/NMJI_20_21. PMID: 38759983
Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, Mozzillo E
Ital J Pediatr 2023 Nov 30;49(1):158. doi: 10.1186/s13052-023-01553-1. PMID: 38037112Free PMC Article
Gruber N, Pinhas-Hamiel O
Curr Diab Rep 2022 Sep;22(9):423-432. Epub 2022 Jul 5 doi: 10.1007/s11892-022-01483-y. PMID: 35789979
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG
Hum Mutat 2017 Jul;38(7):764-777. Epub 2017 Jun 1 doi: 10.1002/humu.23233. PMID: 28432734Free PMC Article
Beshlawi I, Al Zadjali S, Bashir W, Elshinawy M, Alrawas A, Wali Y
Pediatr Blood Cancer 2014 Mar;61(3):528-31. Epub 2013 Nov 19 doi: 10.1002/pbc.24849. PMID: 24249281

Therapy

Veetil VM, Pachat D, Nikitha K, Kutty JM
Natl Med J India 2023 Sep-Oct;36(5):314-315. doi: 10.25259/NMJI_20_21. PMID: 38759983
Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, Mozzillo E
Ital J Pediatr 2023 Nov 30;49(1):158. doi: 10.1186/s13052-023-01553-1. PMID: 38037112Free PMC Article
Beshlawi I, Al Zadjali S, Bashir W, Elshinawy M, Alrawas A, Wali Y
Pediatr Blood Cancer 2014 Mar;61(3):528-31. Epub 2013 Nov 19 doi: 10.1002/pbc.24849. PMID: 24249281
Nutr Rev 1980 Nov;38(11):374-6. doi: 10.1111/j.1753-4887.1980.tb05947.x. PMID: 7454152
Porter FS, Rogers LE, Sidbury JB Jr
J Pediatr 1969 Apr;74(4):494-504. doi: 10.1016/s0022-3476(69)80031-4. PMID: 5767338

Prognosis

Enogieru OJ, Koleske ML, Vora B, Ngo H, Yee SW, Chatad D, Sirota M, Giacomini KM
AAPS J 2021 Mar 1;23(2):35. doi: 10.1208/s12248-021-00562-4. PMID: 33649974Free PMC Article
Zhang S, Qiao Y, Wang Z, Zhuang J, Sun Y, Shang X, Li G
Clin Chim Acta 2021 May;516:157-168. Epub 2021 Feb 9 doi: 10.1016/j.cca.2021.01.025. PMID: 33571483
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG
Hum Mutat 2017 Jul;38(7):764-777. Epub 2017 Jun 1 doi: 10.1002/humu.23233. PMID: 28432734Free PMC Article
Yilmaz Agladioglu S, Aycan Z, Bas VN, Peltek Kendirci HN, Onder A
Genet Couns 2012;23(2):149-56. PMID: 22876572
Ganesh R, Ezhilarasi S, Vasanthi T, Gowrishankar K, Rajajee S
Indian J Pediatr 2009 Mar;76(3):313-4. Epub 2009 Apr 6 doi: 10.1007/s12098-009-0058-5. PMID: 19347672

Clinical prediction guides

Enogieru OJ, Koleske ML, Vora B, Ngo H, Yee SW, Chatad D, Sirota M, Giacomini KM
AAPS J 2021 Mar 1;23(2):35. doi: 10.1208/s12248-021-00562-4. PMID: 33649974Free PMC Article
Zhang S, Qiao Y, Wang Z, Zhuang J, Sun Y, Shang X, Li G
Clin Chim Acta 2021 May;516:157-168. Epub 2021 Feb 9 doi: 10.1016/j.cca.2021.01.025. PMID: 33571483
Tsui E, Tauber J, Barbazetto I, Gelman SK
Retin Cases Brief Rep 2020 Summer;14(3):247-250. doi: 10.1097/ICB.0000000000000686. PMID: 29210962
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG
Hum Mutat 2017 Jul;38(7):764-777. Epub 2017 Jun 1 doi: 10.1002/humu.23233. PMID: 28432734Free PMC Article
Pichler H, Zeitlhofer P, Dworzak MN, Diakos C, Haas OA, Kager L
Eur J Pediatr 2012 Nov;171(11):1711-5. Epub 2012 May 11 doi: 10.1007/s00431-012-1730-8. PMID: 22576805

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