THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME: A NOVEL MUTATION

Agladioglu S. Y., AYCAN Z., Bas V. N., Kendirci H. N. P., Onder A.

GENETIC COUNSELING, cilt.23, sa.2, ss.149-156, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 2
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.149-156
  • Anahtar Kelimeler: Thiamine-responsive megaloblastic anemia, Non-autoimmune diabetes, Hearing loss, New mutation, TERM-FOLLOW-UP, GENE SLC19A2, TRANSPORTER, DEFICIENCY, FAMILIES, DEAFNESS, PATIENT
  • Ankara Üniversitesi Adresli: Hayır

Özet

Thiamine-responsive megaloblastic anemia syndrome: a novel mutation: The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC19A2 that encodes a thiamine transporter protein. The disease can manifest at any time between infancy and adolescence, and not all cardinal findings are present initially. The anemia typically improves significantly with pharmacological doses of thiamine. Variable improvement in diabetes is also noted. However, the hearing loss is apparently irreversible, although a delay in the onset of deafness may be possible.