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
Core Tip

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.