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

Odaman-Al I., Gezdirici A., Yildiz M., Ersoy G., Aydogan G., Salcioglu Z., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.61, sa.2, ss.257-260, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 61 Sayı: 2
  • Basım Tarihi: 2019
  • Doi Numarası: 10.24953/turkjped.2019.02.015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.257-260
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.