Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

ABSTRACT: Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A clinical and molecular investigation was performed in four patients from three families and their healthy family members. All had the typical diagnostic criteria. The onset of hearing loss in three patients was at birth and one patient also had a stroke and seizure disorder. Thiamine treatment effectively corrected the anemia in all of our patients but did not prevent hearing loss. Diabetes was improved in one patient who presented at the age of 8months with anemia and diabetes after 2months of

SUBMITTER: Setoodeh A 

PROVIDER: S-EPMC3725413 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature