Hemojuvelin (HJV)-associated hemochromatosis: Analysis of HJV and HFE mutations and iron overload in three families

Haematologica

Volumn 90, Issue 2, 2005, Pages 254-255

  Wallace, Daniel F ^a   Dixon, Jeannette L ^a   Ramm, Grant A ^a   Anderson, Gregory J ^a   Powell, Lawrie W ^a   Subramaniam, Nathan ^a,b  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

Hemochromatosis; Hemojuvelin; HFE; Iron; Juvenile

Indexed keywords

HEPCIDIN;

ARTICLE; AUSTRALIA; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DISEASE COURSE; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; IRON OVERLOAD; PHENOTYPE; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANTIMICROBIAL CATIONIC PEPTIDES; AUSTRALIA; FAMILY HEALTH; FEMALE; HEMOCHROMATOSIS; HUMANS; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 14344249451     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Camaschella C, Roetto A, De Gobbi M. Juvenile hemochromatosis. Semin Hematol 2002;39:242-8.
2. Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2003;33:21-2.
3. Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 2004;36:77-82.
4. Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C. HAMP as a modifier gene that increases the phenotypic expression of the HFE p.C282Y homozygous genotype. Blood 2003;103: 2835-40.
5. Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet 2003;12:2241-7.
6. Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum Mol Genet 2004;13:1913-8.
7. Lee PL, Barton JC, Brandhagen D, Beutler E. Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset naemochromatosis. Br J Haematol 2004;127:224-9.
8. Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, et al. The spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 2004;103:4317-21.
9. Lee PL, Beutler E, Rao SV, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood 2004;103:4669-71.