Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox
نویسندگان
چکیده
منابع مشابه
Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox
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 muta...
متن کاملEfficacy of deferasirox for the treatment of iron overload in a child affected by Juvenile Hemochromatosis
We report the case of a 7 years old girl with Juvenile Hemochromatosis, due to homozygous mutation of HJV, which had increased serum iron indices and liver iron overload in the absence of any clinical sign of disease. Oral iron chelation with low dose deferasirox showed good efficacy and no side effects. The oral iron chelator deferasirox could be a valid option for removing excess iron in earl...
متن کاملEffects of deferasirox-deferoxamine on myocardial and liver iron in patients with severe transfusional iron overload.
Deferasirox (DFX) monotherapy is effective for reducing myocardial and liver iron concentrations (LIC), although some patients may require intensive chelation for a limited duration. HYPERION, an open-label single-arm prospective phase 2 study, evaluated combination DFX-deferoxamine (DFO) in patients with severe transfusional myocardial siderosis (myocardial [m] T2* 5-<10 ms; left ventricular e...
متن کاملIron Overload in Blood Donors with Hemochromatosis
Volume 41, January 2001 TRANSFUSION 123 Hemochromatosis occurs in approximately 1 in 200 white persons of Western European descent, and it increases the propensity to absorb excess iron. Iron overload associated with hemochromatosis can cause hepatic cirrhosis, primary liver cancer, arthropathy, diabetes mellitus, other endocrinopathic disorders, and a reduction in lifespan.1,2 These complicati...
متن کاملHAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
2. Pelucchi S, Mariani R, Bertola F, Arosio C, Piperno A. Homozygous deletion of HFE: the Sardinian hemochromatosis? Blood. 2009;113(16):3886. 3. Lampis R, Morelli L, De Virgiliis S, Congia M, Cucca F. The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations. Tissue Antigens. 2000;56(6):515-21. 4. Candor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: World Journal of Clinical Cases
سال: 2017
ISSN: 2307-8960
DOI: 10.12998/wjcc.v5.i10.381