Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox

World Journal of Clinical Cases
Manuel Antonio LescanoPaulo Caleb Junior Lima Santos

Abstract

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 < 3...Continue Reading

References

Aug 31, 2007·World Journal of Gastroenterology : WJG·Daniel-F Wallace, V-Nathan Subramaniam
Sep 4, 2010·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Pradyumna PhatakAntonello Pietrangelo
Nov 13, 2010·Acta Haematologica·Paulo Caleb J L SantosElvira M Guerra-Shinohara
Mar 18, 2011·Blood Cells, Molecules & Diseases·Paulo C J L SantosElvira M Guerra-Shinohara
Mar 13, 2012·International Journal of Molecular Sciences·Paulo C J L SantosAlexandre C Pereira
Oct 11, 2012·Revista brasileira de hematologia e hemoterapia·Paulo Caleb Júnior de Lima SantosAlexandre Costa Pereira
Feb 17, 2015·European Journal of Haematology·Rodolfo CançadoSamir K Ballas
Nov 26, 2015·Journal of Hepatology·Pierre Brissot, Olivier Loreal
Mar 24, 2016·Acta Haematologica·Paula Fernanda Silva FonsecaPaulo Caleb Junior Lima Santos

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Citations

May 20, 2021·Advances in Nutrition·Wanhui KangKimberly O O'Brien

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