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

Odaman-Al, Işık; Gezdirici, Alper; Yıldız, Melek; Ersoy, Gizem; Aydoğan, Gönül; Şalcıoğlu, Zafer; Tahtakesen, Tuba; ÖNAL, Hasan; Küçükemre-Aydın, Banu

doi:10.24953/turkjped.2019.02.015

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

Odaman-Al I., Gezdirici A., Yıldız M., Ersoy G., Aydoğan G., Şalcıoğlu Z., ...Daha Fazla

Turkish Journal of Pediatrics, cilt.61, sa.2, ss.257-260, 2019 (SCI-Expanded, Scopus, TRDizin)

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
Anahtar Kelimeler: Diabetes mellitus, SLC19A2 mutation, Thiamine-responsive megaloblastic anemia, Thrombocytopenia
Sağlık Bilimleri 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.