Dyserythropoiesis and Myelodysplasia in Thiamine-Responsive Megaloblastic Anemia Syndrome [PDF]
Clinical Case Reports (discontinued), 2020 The case of thiamine‐responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow‐up, and regulated treatment plan for the patients.
Fariba Tarhani +2 more
exaly +6 more sources
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment [PDF]
Italian Journal of Pediatrics, 2023 Background Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes.
Francesca Di Candia +13 more
doaj +3 more sources
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome [PDF]
Annals of Saudi Medicine, 2014 Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and bilateral sensorineural deafness, responding in varying degrees to thiamine treatment.
Abdulrahman Abdullah Hagr
doaj +4 more sources
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent [PDF]
Indian Journal of Endocrinology and Metabolism, 2012 Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein.
Mohd Ashraf Ganie +7 more
doaj +3 more sources
Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation [PDF]
Journal of OtologyThiamine responsive megaloblastic anemia (TRMA), also known as Roger's syndrome, is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests
Hetal Marfatia +3 more
doaj +3 more sources
A challenging diagnosis for thiamine transporter deficiency anemia (Rogers syndrome) in two young siblings: A rare case report [PDF]
Clinical Case Reports, 2023 We present these two cases to emphasize the necessity of critical thinking and high suspicion of the disease (Rogers syndrome) to avoid potentially fatal situations due to its rarity and the importance of early treatment.
Yara Deeb +4 more
doaj +3 more sources
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome [PDF]
Frontiers in Pediatrics, 2021 Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of 3.5
Pengjiang Kang +5 more
doaj +2 more sources
Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report [PDF]
Journal of Medical Case ReportsBackground Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene.
Francisco Xavier Jiménez +7 more
doaj +2 more sources
Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series [PDF]
Advanced Biomedical ResearchThe 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.
Reshma Roshan +4 more
doaj +2 more sources
Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells.
Khalda Amr +4 more
doaj +2 more sources