Iron chelation with deferasirox in a patient with de-novo ferroportin mutation.
Ferroportin disease is a rare type of autosomal dominantly inherited hemochromatosis caused with mutations in the ferroportin gene (SLC40A1). The patients characteristically have hyperferritinemia but normal transferin saturations. Herein, we present a 15-year-old female whose chief complaint was persistent nausea for the last one year. Extensive work-up including brain imaging revealed nothing to explain the etiology of nausea. The serum ferritin level of 1474ng/mL was suggestive for hemochromatosis syndromes and the molecular testing revealed de-novo c.485_487delTTG (P.Val162del) ferroportin gene mutation. Mild hepatic iron loading, in addition to the cumbersome nausea were accepted as indications for chelation treatment in this particular patient and deferasirox was initiated (10mg/kg/day) since family did not consent for phlebotomy. Deferasirox was stopped by the 9th month of initiation, since nausea subsided and hepatic iron content was normalized, in order to prevent over chelation. There are no well-established guidelines for the chelation of patients with hereditary hemochromatosis syndromes. However, lifelong monitorization for iron loading and re-initiation of chelation when necessary was planned in our patient.
Hacettepe University, Division of Pediatric Hematology, Ankara, 06100, Turkey. Electronic address: suleunal2003@hotmail.com.
Sule
S
Unal
Dipartimento di Scienze della Salute Università degli Studi di Milano-Bicocca, AO San Gerardo, Via Pergolesi 33, 20900 Monza, Italy.
Alberto
A
Piperno
Hacettepe University, Division of Pediatric Hematology, Ankara, 06100, Turkey.
Fatma
F
Gumruk
D000293:Adolescent; D001565:Benzoates / Q000494:pharmacology*; D027682:Cation Transport Proteins / Q000235:genetics*; D000077588:Deferasirox; D005260:Female; D006801:Humans; D007501:Iron / Q000378:metabolism; D007502:Iron Chelating Agents / Q000494:pharmacology*; D009154:Mutation / Q000235:genetics*; D014230:Triazoles / Q000494:pharmacology*; D000098742:Ferroportin
D001565:Benzoates; D027682:Cation Transport Proteins; D007502:Iron Chelating Agents; D014230:Triazoles; D000098742:Ferroportin; D007501:Iron; D000077588:Deferasirox
De-novo; Deferasirox; Ferroportin; Hemochromatosis; Iron