Case Report
Copyright ©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 16, 2017; 5(10): 381-383
Published online Oct 16, 2017. doi: 10.12998/wjcc.v5.i10.381
Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox
Manuel A Lescano, Letícia C Tavares, Paulo C J L Santos
Manuel A Lescano, Institute of Digestive Tract of Southwestern Bahia, Bahia, BA 45023-145, Brazil
Letícia C Tavares, Paulo C J L Santos, Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of Sao Paulo Medical School, São Paulo, SP 05403-900, Brazil
Author contributions: Lescano MA, Tavares LC and Santos PCJL make substantial contributions to conception and design of the case report, acquisition, analysis, and interpretation of data; all authors participate in drafting the article and revising it critically for important intellectual content.
Institutional review board statement: The study protocol was approved by the Ethics Committee of Hospital das Clinicas (HC), Heart Institute (InCor), Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Brazil (SDC: 4027/14/007).
Informed consent statement: The study participants provided informed consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that there is no conflict of interest in this study.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Paulo C J L Santos, PhD, Adjunct Professor (Department of Pharmacology, Universidade Federal de Sao Paulo - UNIFESP), Collaborator Researcher, Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of Sao Paulo Medical School, 03 de Maio, St. INFAR, 4th floor, Vila Clementino, São Paulo, SP 05403-900, Brazil.
Telephone: +55-11-55764848
Received: March 21, 2017
Peer-review started: March 23, 2017
First decision: June 15, 2017
Revised: June 23, 2017
Accepted: August 2, 2017
Article in press: August 3, 2017
Published online: October 16, 2017

Juvenile hemochromatosis (JH) is a rare condition classified as an autosomal recessive disorder that leads to severe iron absorption. JH usually affects people under the age of 30 and presents symptoms such as chronic liver damage, hypogonadotropic hypogonadism, cardiac diseases and endocrine dysfunctions. The present case reports a 29-year-old Brazilian woman with JH condition due to HAMP mutation (g.47G>A), treated with phlebotomies and deferasirox. She presented symptoms such as weakness, skin hyperpigmentation, joint pain in the shoulders and hands and amenorrhea. First laboratory tests showed altered biochemical parameters [serum ferritin (SF): 5696 ng/mL, transferrin saturation (TS): 85%]. After sessions of phlebotomies (450 mL every 15 d), the patient presented partial symptomatic improvements and biochemical parameters (SF: 1000 ng/mL, Hb: 11 g/dL). One year later, deferasirox (15 mg/kg per day) was introduced to the treatment, and the patient showed total symptomatic improvement, with significant clearing of the skin, SF: 169 ng/mL, and TS: 50%. Furthermore, after the combined deferasirox-phlebotomy therapy, magnetic resonance imaging measurements revealed normalized level for liver iron (30 μmol/g; reference value < 36 μmol/g). In conclusion, combined deferasirox-phlebotomy treatment was able to normalize iron levels and improve symptoms.

Keywords: Genetic disease, Juvenile hemochromatosis, HAMP gene, Mutation, Iron chelation

Core tip: A 29-year-old Brazilian woman, from a city in the countryside of the State of Bahia, Brazil, was referred to our service in 2015 because of a hepatomegaly clinical condition, detected by imaging exam. This case study reports a patient with juvenile hemochromatosis condition due to HAMP mutation (g.47G>A) treated with phlebotomies and deferasirox, which were able to normalize iron levels and improve symptoms.