Thiamine-Responsive Megaloblastic Anemia Syndrome Combined with Thalassemia Trait: A Rare Association
Abstract: IntroductionThiamine-responsive megaloblastic anemia syndrome (TRMA, OMIM reference 249270), also known as Rogers' syndrome, is a rare type of anemia characterized by the triad megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus (DM). Disturbance of thiamine transport into cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. Case ReportWe report the case of an 8-year-old girl who presented at age 4 years with anemia. She had a combined hematological profile of microcytic and macrocytic anemia. The parents refused bone marrow aspiration and genetic diagnosis. Hemoglobin electrophoresis established the thalassemia trait. She was later confirmed to have sensorineural deafness and monogenic DM. A tentative TRMA diagnosis was based on megaloblastic anemia, sensorineural deafness, and monogenic DM triad. The patient was treated empirically with a daily dose of thiamine 200mg; her hemoglobin level normalized, but the deafness and DM did not improve. ConclusionIn routine practice, patients with TRMA must be evaluated thoroughly for other causes of megaloblastic anemia, including therapeutic thiamine trials in the presence of sensorineural deafness or DM. These patients should be followed throughout their life span both for DM and to control their response to thiamine therapy for megaloblastic anemia.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Thiamine-Responsive Megaloblastic Anemia Syndrome Combined with Thalassemia Trait: A Rare Association ; day:28 ; month:08 ; year:2023
Ibnosina journal of medicine and biomedical sciences ; (28.08.2023)
- Contributor
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Mabrouk, Abdelazim
Aburawi, Elhadi H.
- DOI
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10.1055/s-0043-1772821
- URN
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urn:nbn:de:101:1-2023101210571182246195
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:51 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Mabrouk, Abdelazim
- Aburawi, Elhadi H.
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Mitochondria from cultured cells derived from normal and thiamine-responsive megaloblastic anemia individuals efficiently import thiamine diphosphate
A Thiamine Responsive Megaloblastic Anemia Presented with Hypertriglyceridemia and Auto-immune Diabetes : One Sentence Summary: Thiamine therapy might be an alternative in patients presenting with diabetes and anemia.
A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia
New logarithm-based discrimination formula for differentiating thalassemia trait from iron deficiency anemia in pregnancy
ThalPred: a web-based prediction tool for discriminating thalassemia trait and iron deficiency anemia
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
The role of discriminant functions in screening beta thalassemia trait and iron deficiency anemia among laboratory samples
Correction to: ThalPred: a web-based prediction tool for discriminating thalassemia trait and iron deficiency anemia
Neonatal hemolytic anemia does not always indicate thalassemia: a case report
Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate
Parvovirus B19 infection presenting with severe erythroid aplastic crisis during pregnancy in a woman with autoimmune hemolytic anemia and alpha-thalassemia trait: a case report
Prevalence of iron deficiency anemia and beta thalassemia carriers among relatives of beta thalassemia patients in Nile Delta region, Egypt: a multicenter study
Mitochondria from cultured cells derived from normal and thiamine-responsive megaloblastic anemia individuals efficiently import thiamine diphosphate
A Thiamine Responsive Megaloblastic Anemia Presented with Hypertriglyceridemia and Auto-immune Diabetes : One Sentence Summary: Thiamine therapy might be an alternative in patients presenting with diabetes and anemia.
A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia
New logarithm-based discrimination formula for differentiating thalassemia trait from iron deficiency anemia in pregnancy
ThalPred: a web-based prediction tool for discriminating thalassemia trait and iron deficiency anemia
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
The role of discriminant functions in screening beta thalassemia trait and iron deficiency anemia among laboratory samples
Correction to: ThalPred: a web-based prediction tool for discriminating thalassemia trait and iron deficiency anemia
Neonatal hemolytic anemia does not always indicate thalassemia: a case report
Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate
Parvovirus B19 infection presenting with severe erythroid aplastic crisis during pregnancy in a woman with autoimmune hemolytic anemia and alpha-thalassemia trait: a case report