International Journal of Hematology

, Volume 92, Issue 3, pp 524–526

Thiamine-responsive megaloblastic anemia syndrome

  • Ali Bay
  • Mehmet Keskin
  • Samil Hizli
  • Hatice Uygun
  • Alper Dai
  • Fatma Gumruk
Case Report

Abstract

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.

Keywords

Thiamine-responsive megaloblastic anemia Thrombocytopenia Diabetes mellitus 

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Copyright information

© The Japanese Society of Hematology 2010

Authors and Affiliations

  • Ali Bay
    • 1
    • 6
  • Mehmet Keskin
    • 2
  • Samil Hizli
    • 3
  • Hatice Uygun
    • 4
  • Alper Dai
    • 4
  • Fatma Gumruk
    • 5
  1. 1.Department of Pediatrics, Division of Pediatric HematologyGaziantep UniversityGaziantepTurkey
  2. 2.Department of Pediatrics, Division of Pediatric EndocrinologyGaziantep UniversityGaziantepTurkey
  3. 3.Department of Pediatrics, Division of Pediatric GastroenterologyGaziantep UniversityGaziantepTurkey
  4. 4.Department of PediatricsGaziantep UniversityGaziantepTurkey
  5. 5.Department of Pediatrics, Division of Pediatric HematologyHacettepe UniversityAnkaraTurkey
  6. 6.Gaziantep Universitesi Tıp Fakultesi Cocuk Hastalıkları KlinigiGaziantepTurkey

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