Indications for Successful Iron Overload Treatment and Monitoring: Hereditary Haemochromatosis. Pierre Brissot, MD Professor of Medicine Liver Disease Department University Hospital Pontchaillou Rennes, France. Outline. Iron overload treatment of HFE-haemochromatosis Type 1 or C282Y/C282Y HC
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Pierre Brissot, MDProfessor of Medicine
Liver Disease DepartmentUniversity Hospital PontchaillouRennes, France
Iron overload treatment of
HC = haemochromatosis; TfR2 = transferrin receptor 2.
Phlebotomy = Therapy of Choice
Courtesy of P. Garo, Phanie Agency
PhlebotomyHFE-HaemochromatosisPrinciple of Phlebotomy
Courtesy of P. Brissot
1. Brissot P, de Bets F.Hematology. Am Soc Hematol Educ Program. 2006:36.
Brissot P, de Bets F. Hematology. Am Soc Hematol Educ Program. 2006:36.
Two important notions
1. Brissot P, de Bels F. HematologyAm Soc Hematol Educ Program. 2006:36. 2. Dooley JS. Pract Res Clin Haematol. 2002;15:277.
May contribute to increase in plasma transferrin saturation (TfSat) and favour (whenever TfSat is ≥75%1) the appearance of labile plasma iron (LPI), which is the potentially toxic form of circulating iron
1. Le Lan C, et al. Blood. 2005;105:4527.
From the clinical viewpoint
Adams PC. Lancet. 2007;370:1855.
Dooley JS. Pract Res Clin Haematol. 2002;15:277.
From the societal viewpoint:
Until recently: a very limited place
• Principle Monitoring:
• LimitationsHFE-Haemochromatosis Oral Chelation by Deferasirox—An Interesting Perspective
1. Adams PC. Lancet. 2007;370:1855.
Could be used
1. Adams PC. Lancet. 2007;370:1855. 2. Beutler E. Blood Cells Mol Dis. 2007;39:140.
Deferasirox will be used, provided it does not lead to significant side-effects
This is the goal of an ongoing international safety trial
The respective place of phlebotomies and oral chelation depends greatly on the underlying pathophysiological mechanisms accounting for iron overload
For type 2 HC (juvenile HC by haemojuvelin or hepcidin mutations), type 3 HC (TfR2 HC) or type 4-B HC (ferroportin disease with hepcidin resistance)
For type 4-A HC (usual form of ferroportin disease), and hereditary aceruloplasminaemia, both characterized by an impairment of cellular iron release into the blood (= iron recycling defect)
For all forms of HC related to hepcidin deficiency (ie,Types 1, 2, and 3 haemochromatosis):
The therapeutic approach will be either exogenous hepcidin supplementation or endogenous stimulation of hepcidin production