HJV hemochromatosis, iron overload, and hypogonadism in a Brazilian man: treatment with phlebotomy and deferasirox.

摘要

Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron overload which affects young patients and usually leads to organ damage (cardiomyopa-thy, hypogonadotrophic hypogonadism, liver disease, and endocrine disturbances) before the age of 30 [1, 2]. Here, a case with both clinical and molecular diagnosis of JH in which the adjuvant use of deferasirox therapy presented significant improvements in both biochemical and clinical disease control is reported. To our knowledge, this is the first Brazilian report of JH.