A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

Turk J Pediatr. 2019;61(2):257-260. doi: 10.24953/turkjped.2019.02.015.

Abstract

Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus. Here we report, a 5-year-old boy who presented with transfusion dependent anemia and diabetes mellitus and was diagnosed with TRMA. Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia.

Keywords: SLC19A2 mutation; diabetes mellitus; thiamine-responsive megaloblastic anemia; thrombocytopenia.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Megaloblastic / genetics*
  • Anemia, Megaloblastic / metabolism
  • Child, Preschool
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / metabolism
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / metabolism
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Membrane Transport Proteins / metabolism
  • Mutation*
  • Thiamine Deficiency / congenital*
  • Thiamine Deficiency / genetics
  • Thiamine Deficiency / metabolism
  • Turkey

Substances

  • Membrane Transport Proteins
  • SLC19A2 protein, human
  • DNA

Supplementary concepts

  • Thiamine responsive megaloblastic anemia syndrome