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Literature DB >> 23049448

Non-HFE hemochromatosis.

Paulo Caleb Júnior de Lima Santos¹, Carla Luana Dinardo, Rodolfo Delfini Cançado, Isolmar Tadeu Schettert, José Eduardo Krieger, Alexandre Costa Pereira.

Abstract

Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV, type 2Ajuvenile HH), hepcidin (HAMP, type 2B juvenile HH), transferrin receptor 2 (TFR2, type 3 HH) and ferroportin (SLC40A1, type 4 HH). The aim of this review is to explore molecular, clinical and management aspects of non-HFE hemochromatosis.

Entities: Chemical Disease Gene Mutation Species

Keywords: Hemochromatosis; Iron metabolism disorders; Iron overload

Year: 2012 PMID： 23049448 PMCID： PMC3460409 DOI： 10.5581/1516-8484.20120079

Source DB: PubMed Journal: Rev Bras Hematol Hemoter ISSN： 1516-8484

63 in total

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

Authors: Paulo Caleb J L Santos; Rodolfo D Cançado; Alexandre C Pereira; Carlos S Chiattone; Jose Eduardo Krieger; Elvira M Guerra-Shinohara
Journal: Acta Haematol Date: 2010-11-12 Impact factor: 2.195

2. Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.

Authors: Paulo Caleb Júnior de Lima Santos; Alexandre C Pereira; Rodolfo D Cançado; Isolmar T Schettert; Rosario D C Hirata; Mario H Hirata; Maria Stella Figueiredo; Carlos S Chiattone; Jose E Krieger; Elvira M Guerra-Shinohara
Journal: Genet Test Mol Biomarkers Date: 2010-11-01

Review 3. Diagnosis and management of hereditary haemochromatosis.

Authors: M A van Bokhoven; C Th B M van Deursen; D W Swinkels
Journal: BMJ Date: 2011-01-19

Review 4. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment.

Authors: Antonello Pietrangelo
Journal: Gastroenterology Date: 2010-06-11 Impact factor: 22.682

5. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.

Authors: Paulo C J L Santos; Rodolfo D Cançado; Alexandre C Pereira; Isolmar T Schettert; Renata A G Soares; Regina A Pagliusi; Rosario D C Hirata; Mario H Hirata; Ana C Teixeira; Maria Stella Figueiredo; Carlos S Chiattone; Jose E Krieger; Elvira M Guerra-Shinohara
Journal: Blood Cells Mol Dis Date: 2011-04-15 Impact factor: 3.039

6. HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?

Authors: Paulo C J L Santos; Alexandre C Pereira; Rodolfo D Cançado; Isolmar T Schettert; Tiago J P Sobreira; Paulo S L Oliveira; Rosario D C Hirata; Mario H Hirata; Maria Stella Figueiredo; Carlos S Chiattone; Jose E Krieger; Elvira M Guerra-Shinohara
Journal: Blood Cells Mol Dis Date: 2010-09-16 Impact factor: 3.039

Review 7. The molecular basis of iron overload disorders and iron-linked anemias.

Authors: Jerry Kaplan; Diane M Ward; Ivana De Domenico
Journal: Int J Hematol Date: 2011-01-07 Impact factor: 2.490

Review 8. Hepcidin in human iron disorders: therapeutic implications.

Authors: Antonello Pietrangelo
Journal: J Hepatol Date: 2010-08-26 Impact factor: 25.083

9. Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

Authors: Patricia Aguilar-Martinez; Chun Yu Lok; Séverine Cunat; Estelle Cadet; Kathryn Robson; Jacques Rochette
Journal: Haematologica Date: 2007-03 Impact factor: 9.941

10. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis.

Authors: Pradyumna Phatak; Pierre Brissot; Mark Wurster; Paul C Adams; Herbert L Bonkovsky; John Gross; Peter Malfertheiner; Gordon D McLaren; Claus Niederau; Alberto Piperno; Lawrie W Powell; Mark W Russo; Ulrich Stoelzel; Wolfgang Stremmel; Louis Griffel; Nicola Lynch; Yiyun Zhang; Antonello Pietrangelo
Journal: Hepatology Date: 2010-11 Impact factor: 17.425

9 in total

1. Impact of HFE-2 and HAMP Gene Variations on Iron Overload in Pediatric Patients with Non-Transfusion Dependent Thalassemia: A Pilot Study.

Authors: Niteesh Bharadwaj; Srinivasan Peyam; Prateek Bhatia; Anmol Bhatia; Reena Das; Minu Singh; Deepak Bansal; Amita Trehan; Richa Jain
Journal: Indian J Hematol Blood Transfus Date: 2021-05-07 Impact factor: 0.900

2. A small molecule redistributes iron in ferroportin-deficient mice and patient-derived primary macrophages.

Authors: Stella Ekaputri; Eun-Kyung Choi; Manuela Sabelli; Luisa Aring; Kelsie J Green; JuOae Chang; Kai Bao; Hak Soo Choi; Shigeki Iwase; Jonghan Kim; Elena Corradini; Antonello Pietrangelo; Martin D Burke; Young Ah Seo
Journal: Proc Natl Acad Sci U S A Date: 2022-06-22 Impact factor: 12.779

Review 3. Neuroimaging, nutrition, and iron-related genes.

Authors: Neda Jahanshad; Priya Rajagopalan; Paul M Thompson
Journal: Cell Mol Life Sci Date: 2013-07-02 Impact factor: 9.261

4. Autoimmune hepatitis: diagnostic dilemma in the setting of suspected iron overload.

Authors: In Chul An; Ashish K Tiwari; Srujan Ameda; Heather S Laird-Fick
Journal: Case Rep Gastrointest Med Date: 2013-08-19

5. Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.

Authors: Paula Fernanda Silva Fonseca; Rodolfo Delfini Cançado; Flavio Augusto Naoum; Carla Luana Dinardo; Guilherme Henrique Hencklain Fonseca; Sandra Fatima Menosi Gualandro; José Eduardo Krieger; Alexandre Costa Pereira; Pierre Brissot; Paulo Caleb Junior Lima Santos
Journal: BMC Med Genet Date: 2018-01-05 Impact factor: 2.103