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GENATLAS PHENOTYPE
last update : 17-12-2011
Symbol TRMA
Location 1q23.2-q23.3
Name thiamine responsive megaloblastic anemia
Other name(s)
  • Rogers syndrome
  • thiamine-responsive anemia syndrome
  • thiamine-responsive myelodysplasia
  • Corresponding gene SLC19A2
    Main clinical features
  • a delayed progressive onset suggesting a cumulative damage due to intracellular thiamine deficiency
  • associated with non insulin dependent diabetes mellitus and neurosensory deafness
  • megaloblastic anemia, thrombocytopenia, diabetes mellitus and sensorineural deafness (if not treated or if treated too late individuals also develop mental retardation) (PMID: 22152682))
  • diagnosis of TRMA should be suspected in patients with syndromic diabetes including hearing loss and anaemia, even if the latter is only very mild (PMID: 17659067))
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    ear
    Type disease
    Gene product
    Name thiamine transporter (SLC19A2)
    Remark(s)
  • can result from decreased thiamine transport activity underpinned by changes in SLC19A2 expression levels, cellular targeting and/or protein transport activity (PMID: 17331069 )