A unique mutation in the L ferritin coding sequence associated with low serum ferritin level in the presence of normal values of other iron parameters


Ciftciler R., Yilmaz E. , BÜYÜKAŞIK Y.

TRANSFUSION AND APHERESIS SCIENCE, cilt.59, sa.4, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Konu: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.transci.2020.102764
  • Dergi Adı: TRANSFUSION AND APHERESIS SCIENCE

Özet

A genetic mutation was detected by our clinic in two sisters in a family with low iron levels and mild symptoms. We identified this missense mutation in the FTL gene (c.473T > C; p.Pro158Leu, rs374486686) of the sisters who had weakness symptom and low serum ferritin level. This mutation causes the codon CCG changing into CTG, thus composing an amino acid substitution in which proline 158 is replaced by leucine. The patients with this mutation had unmeasurable serum ferritin levels while other iron parameters' levels are normal. As a result of this mutation, we demonstrated that ferritin connects iron however it can not store iron.