The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 3
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness
Departments of Pediatrics, Bakırköy Training Hospital1,İstanbul University Cerrahpaşa Faculty of Medicine, İstanbul, Turkey2,
Thiamine-responsive megaloblastic anemia syndrome is an autosomal
recessive disorder characterized by diabetes mellitus, megaloblastic anemia
and sensorineural hearing loss. Mutations in the SLC19A2 gene, encoding a
high-affinity thiamine transporter protein, THTR-1, are responsible for the
clinical features associated with thiamine-responsive megaloblastic anemia
syndrome in which treatment with pharmacological doses of thiamine correct
the megaloblastic anemia and diabetes mellitus. The anemia can recur when
thiamine is withdrawn. Thiamine may be effective in preventing deafness if
started before two months. Our patient was found homozygous for a mutation,
242insA, in the nucleic acid sequence of exon B, with insertion of an adenine
introducing a stop codon at codon 52 in the high-affinity thiamine transporter
gene, SLC19A2, on chromosome 1q23.3.
Keywords :
thiamine-responsive megaloblastic anemia, diabetes mellitus, deafness.