title: Absence of teratogenicity of deferasirox treatment during pregnancy in a thalassaemic patient.
abstract: A 34 year-old female thalassaemia major patient regularly followed in our Thalassaemia Centre was diagnosed at 16 years of age with primary amenorrhea. The endocrine investigations were compatible with hypogonadotropic hypogonadism. Puberty was induced with oral oestrogens and progesterone, followed by transdermal hormone replacement therapy. She had initiated regular blood transfusions at 8 months of age and iron chelation therapy with desferioxamine at the age of 2 years, and in 2006 she was switched to treatment with the oral iron chelator deferasirox (DFX). In November 2009, the patient reported a temporary interruption of transdermal hormone replacement therapy during the previous July and August, and complained of the absence of menstrual flow since then. We suspected a pregnancy that was confirmed by pelvic ultrasound (presence of a fetus of 20 weeks' gestational age) and positive plasma b-hCG levels (14000 mIU/ ml). DFX was immediately discontinued and the patient was managed jointly with an obstetrician expert in haemoglobin disorders. In March 2010 she delivered via caesarean section, at 38 weeks of gestation, a male neonate with a weight of 3.300 Kg with no complications or malformations. The main messages from this patient are that: (i) the hypogonadotropic hypogonadism, secondary to iron overload, may be reversible, (ii) transdermal hormone replacement therapy and regular iron chelation therapy may have had a synergistic action on the activation of hypothalamic-pituitary-gonadal axis, (iii) the deferasirox treatment during pregnancy may be harmless for the fetus at the usually recommended therapeutic doses, (iv) periodic patient education is needed in order to fully explain the aim and the effects of sex steroid hormone replacement therapy given transdermally. The Authors discuss the current knowledge on iron chelation therapy during pregnancy.
authors.affiliation: Thalassemia Department, Hospital Garibaldi, Catania, Italy. s.anastasi@ao-garibaldi.ct.it
authors.forename: Salvatore
authors.initials: S
authors.lastname: Anastasi
authors.forename: Roberto
authors.initials: R
authors.lastname: Lisi
authors.forename: Giovanna
authors.initials: G
authors.lastname: Abbate
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Caruso
authors.forename: Michela
authors.initials: M
authors.lastname: Giovannini
authors.forename: Vincenzo
authors.initials: V
authors.lastname: De Sanctis
mesh_terms: D000328:Adult; D001565:Benzoates / Q000008:administration & dosage* / Q000009:adverse effects; D000077588:Deferasirox; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007502:Iron Chelating Agents / Q000008:administration & dosage* / Q000009:adverse effects; D008297:Male; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000188:drug therapy*; D011256:Pregnancy Outcome; D013723:Teratogens; D014230:Triazoles / Q000008:administration & dosage* / Q000009:adverse effects; D017086:beta-Thalassemia / Q000188:drug therapy*
chemical_list: D001565:Benzoates; D007502:Iron Chelating Agents; D013723:Teratogens; D014230:Triazoles; D000077588:Deferasirox