ea0024p39 | (1) | BSPED2010
Aswani N
, Price K
We describe four cases of Thiamine Responsive Megaloblastic Anaemia (TRMA), Rogers Syndrome. Three cases are siblings, the fourth from another family. They are all of Pakistani origin and born to consanguineous parents. All have the clinical triad of megaloblastic anaemia, non-type 1 diabetes mellitus, and sensorineural deafness.The SLC19A2 gene mutation affects the transport of thiamine, which is required for normal tissue growth and development in huma...