TRMA
Thiamine-Responsive Megaloblastic Anemia, TRMA - SLC19A2
Clinical Features
The clinical triad of thiamine-responsive anemia, diabetes mellitus, and deafness associated with macrocytic anemia and sometimes moderate thrombocytopenia are the typical signs of the disease. Bone marrow aspirates usually show ringed sideroblasts in addition to the megaloblastic changes. The blood cell alterations and the clinical symptoms show regression for thiamine therapy, suggesting that thiamine may play a role in the regulation of hemopoiesis at stem cell level.
Genetic Information
Mutations were found in TRMA families in a gene, SLC19A2, encoding a putative transmembrane protein homologous to the reduced folate carrier proteins. The findings suggested that a defective thiamine transporter protein, THTR1, underlies the TRMA syndrome.
Prevalence
No epidemiological data are known
Diagnostic
Indication
Method
Mutation analysis of the entire coding and flanking intronic regions with intronic primers of the SLC19A2 gene by direct DNA sequencing
Sample Requirement
2 - 4 ml EDTA-blood
Duration
2 - 4 weeks