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

Rafiye Ciftciler; Engin Yılmaz; Yahya Buyukasik

doi:10.1016/j.transci.2020.102764

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

Transfus Apher Sci. 2020 Aug;59(4):102764. doi: 10.1016/j.transci.2020.102764. Epub 2020 Mar 27.

Authors

Rafiye Ciftciler¹, Engin Yılmaz², Yahya Buyukasik³

Affiliations

¹ Department of Hematology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: rafiyeciftciler@hacettepe.edu.tr.
² Department of Medical Biology, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
³ Department of Hematology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

PMID: 32241646
DOI: 10.1016/j.transci.2020.102764

Abstract

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.

Keywords: FTL gene mutation; Ferritin; Iron.

Publication types

Case Reports

MeSH terms

Adult
Female
Ferritins / blood*
Humans
Iron / metabolism*
Mutation
Reference Values
Young Adult

Substances

Ferritins
Iron