Thiamine responsive megaloblastic anemia syndrome

Common Name(s)

Thiamine responsive megaloblastic anemia syndrome, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Thiamine-responsive megaloblastic anemia syndrome is a very rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia. Affected individuals begin to show symptoms of this condition between infancy and adolescence. This syndrome is called "thiamine-responsive" because the anemia can be treated with high doses of vitamin B1 (thiamine). This condition is caused by mutations in the SLC19A2 gene and is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thiamine responsive megaloblastic anemia syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thiamine responsive megaloblastic anemia syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts.
 

Author(s): A R Stagg, J C Fleming, M A Baker, M Sakamoto, N Cohen, E J Neufeld

Journal: J. Clin. Invest.. 1999 Mar;103(5):723-9.

 

We have investigated the cellular pathology of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes and deafness. Cultured diploid fibroblasts were grown in thiamine-free medium and dialyzed serum. Normal fibroblasts survived indefinitely without supplemental ...

Last Updated: 31 Mar 1999

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Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.
 

Author(s): E J Neufeld, H Mandel, T Raz, R Szargel, C N Yandava, A Stagg, S Fauré, T Barrett, N Buist, N Cohen

Journal: Am. J. Hum. Genet.. 1997 Dec;61(6):1335-41.

 

Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," is an early-onset autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. ...

Last Updated: 19 Mar 1998

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Thiamine responsive megaloblastic anemia syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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