Thiamine-responsive megaloblastic anemia syndrome

Bay A., KESKİN M., Hizli S., Uygun H., Dai A., GÜMRÜK F.

INTERNATIONAL JOURNAL OF HEMATOLOGY, cilt.92, sa.3, ss.524-526, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 92 Sayı: 3
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1007/s12185-010-0681-y
  • Dergi Adı: INTERNATIONAL JOURNAL OF HEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.524-526
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent.