TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature (original) (raw)
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TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report
Endocrine Abstracts, 2019
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome presenting with early onset nonautoimmune diabetes mellitus, megaloblastic anaemia and sensorineural deafness. We report a 16-month-old male, a youngest case of genetically confirmed TRMA syndrome in Indian phenotype, born to consanguineous parents. We found a homozygous pathogenic variant in exon 2 of the SLC19A2 gene, c.314G>A (p.Gly105Glu). The anaemia showed a good response to daily thiamine doses and was able to avoid unwanted blood transfusion. There was no benefit with regard to insulin requirement. Early detection of hearing impairment and referral to audiological treatment was possible. The report indicates that TRMA should be considered as a differential diagnosis for patients presenting with suggestive clinical symptoms which would have tremendous impact on patient management if identified early.
Thiamine-responsive megaloblastic anemia syndrome
International journal of …, 2010
Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mel-litus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of dis-ease is usually seen during infancy or at early ...
Thiamine-Responsive Megaloblastic Anemia Syndrome: A Disorder of High-Affinity Thiamine Transport
Blood Cells, Molecules, and Diseases, 2001
Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent.
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare disease comprising a classic triad of megaloblastic anemia, diabetes mellitus, and early-onset sensorineural deafness. TRMA can generally be diagnosed in early childhood. Early diagnosis is important to prevent complications that may develop soon. As it is a rare disease, diagnosis may sometimes be difficult. We present a rare case of an adult patient with TRMA who had been mistakenly diagnosed with myelodysplastic syndrome (MDS), whose anemia was corrected only after thiamine treatment was started.
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation
Genetic counseling, 2012
The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A2 that encodes a thiamine transporter protein. The disease can manifest at any time between infancy and adolescence, and not all cardinal findings are present initially. The anemia typically improves significantly with pharmacological doses of thiamine. Variable improvement in diabetes is also noted. However, the hearing loss is apparently irreversible, although a delay in the onset of deafness may be possible. We present a 2-year old girl with non-autoimmune diabetes mellitus and anemia in whom we found a novelc.95T>A (leu32X) mutation in the SLC19A2 gene in this study.Our patient with this new mutation did not suffer from hearing loss.
Ibnosina Journal of Medicine and Biomedical Sciences
Introduction Thiamine-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 Report We 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 200 mg; her hemoglobin level normalized, but the deafness and ...
Background: Thiamine responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by non type 1 diabetes mellitus (DM), sensorineural hearing loss and megaloblastic anemia and caused by mutations in SLC19A2 gene, encoding a thiamine transporter protein. Case: A 3-month-old male infant presented with megaloblastic anemia, DM, patent ductus arteriosus and hypertriglyceridemia. His autoimmune markers for DM were positive but with the additional finding of sensorineural deafness he was diagnosed with TRMA and thiamine therapy was started. His anemia was improved and insulin needs decreased and his genetic studies revealed a homozygous frameshift mutation, c.641del within coding region of SLC19A2 gene. Conclusion: Clinical presentation of TRMA could be highly variable and some co-existence could perplex physicians, but this diagnosis should be considered in all patients with DM and anemia and further assessment should be done.