Natural history of juvenile haemochromatosis

British Journal of Haematology

Volumn 117, Issue 4, 2002, Pages 973-979

  De Gobbi, Marco ^a   Roetto, Antonella ^a   Piperno, Alberto ^b   Mariani, Raffaella ^b   Alberti, Federica ^a   Papanikolaou, George ^c   Politou, Marianna ^c   Lockitch, Gillian ^d   Girelli, Domenico ^e   Fargion, Silvia ^f   Cox, Thimoty M ^g   Gasparini, Paolo ^h   Cazzola, Mario ⁱ   Camaschella, Clara ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b SAN GERARDO HOSPITAL   (Italy)

^c UNIVERSITY OF ATHENS   (Greece)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e UNIVERSITY OF VERONA   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h Hospital IRRCS San Giovanni Rotondo   (Italy)

ⁱ FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

HFE; Iron overload; Juvenile haemochromatosis; Linkage analysis; Phenotype

Indexed keywords

IRON;

ADOLESCENT; ADULT; AGE; ARTICLE; BODY BURDEN; CARDIOMYOPATHY; CHILD; CHROMOSOME 1Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ETHNIC GROUP; FEMALE; GENETIC ANALYSIS; GLUCOSE TOLERANCE; HEMOCHROMATOSIS; HEMOCHROMATOSIS TYPE 3; HOMOZYGOSITY; HUMAN; HYPOGONADISM; IRON BLOOD LEVEL; JUVENILE HEMOCHROMATOSIS; LIVER CIRRHOSIS; MALE; PHENOTYPE; PRIORITY JOURNAL; TISSUE INJURY;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; FERRITINS; GENOTYPE; HEMOCHROMATOSIS; HUMANS; IRON; IRON OVERLOAD; LIVER; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; TRANSFERRIN;

EID: 0036075097     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03509.x     Document Type: Article

References (42)

1. Evolving expression of hereditary hemochromatosis
2. The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis
3. Disorders of iron metabolism
4. Juvenile hemochromatosis
5. Juvenile and adult hemochromatosis are distinct genetic disorders
6. Inherited HFE-unrelated hemochromatosis in Italian families
7. Hereditary hemochromatosis: Progress and perspective
8. The gene encoding transferrin receptor 2 is mutated in a new type of hemochromatosis mapping to 7q22
9. Mutation analysis of HLA-H gene in Italian hemochromatosis patients
10. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
11. Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder
12. Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis
13. Juvenile hemochromatosis associated with b-thalassaemia treated by phlebotomy and recombinant human erythropoietin
14. Successful pregnancy following gonadotropin therapy in a young female with juvenile idiopathic hemochromatosis and secondary hypogonadotropic hypogonadism
15. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
16. Regulation of iron balance in humans
17. Hereditary hemochromatosis in children, adolescents and young adults
18. Pathophysiology of iron overload
19. Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies
20. Primary hemochromatosis in children: Report of three newly diagnosed cases and review of the pediatric literature
21. Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron storage disease
22. Current results and evolving indications for liver transplantation in children
23. Neonatal hemochromatosis
24. Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people
25. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
26. Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives
27. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
28. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
29. Iron chelating therapy and the treatment of thalassemia
30. Hereditary hemochromatosis. HFE mutation analysis in Greeks reveals genetic heterogeneity
31. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis
32. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
33. Heterogeneity of hemochromatosis in Italy
34. Haemochromatosis in patients with β-thalassaemia trait
35. Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada)
36. Confirmation of linkage of juvenile hemochromatosis on chromosome 1q in families from Saguenay-Lac-Saint-Jean (Quebec, Canada)
37. The juvenile hemochromatosis locus maps to chromosome 1q
38. Exclusion of Zirtl as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21
39. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
40. The molecular defect in hypotransferrinemic mouse
41. A case of non-HFE haemochromatosis presenting with adrenocortical insufficiency