Frameshift variance in SLC19A2 gene causing thiamine responsive megaloblastic anemia (TRMA): a case report from Pakistan

ConclusionThe diagnosis of TRMA should be kept in mind in differential diagnosis of DM with anemia and or sensorineural hearing loss. Particularly in the populations where the consanguinity is frequent as diagnosis has great impact on management.
Source: International Journal of Diabetes in Developing Countries - Category: Endocrinology Source Type: research