Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload

Hepatology

Volumn 59, Issue 3, 2014, Pages 1204-1206

  Yin, Dan ^a,b   Kulhalli, Vasu ^c   Walker, Ann P ^b  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NEWHAM UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; FERRITIN; FERROPORTIN; FORMALDEHYDE; HEMOGLOBIN; IRON; TRANSFERRIN;

5' UNTRANSLATED REGION; ADULT; AMINOTRANSFERASE BLOOD LEVEL; ANKLE ARTHRITIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CATARACT; CATARACT EXTRACTION; CAUCASIAN; DIAGNOSTIC ERROR; FAMILY HISTORY; FERRITIN BLOOD LEVEL; GENE; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME; HFE GENE; HOSPITALIZATION; HUMAN; HUMAN TISSUE; HYPERFERRITINEMIA; IRON BINDING CAPACITY; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; IRON OVERLOAD; IRON RESPONSIVE ELEMENT; IRON STORAGE; IRON THERAPY; KNEE ARTHRITIS; LIVER BIOPSY; MALE; MEDICAL HISTORY; MOTHER; MUTATIONAL ANALYSIS; PHLEBOTOMY; PRIORITY JOURNAL;

BIOLOGICAL MARKERS; CATARACT; FERRITINS; HUMANS; IRON METABOLISM DISORDERS; IRON OVERLOAD; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION;

EID: 84896721746     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.26681     Document Type: Article

References (3)

1. Lim FL, Dooley JS, Roques AW, Grellier L, Dhillon AP, Walker AP. Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease. Blood Cells Mol Dis 2008;40:328-333.
2. Cohen LA, Gutierrez L, Weiss A, Leichtmann-Bardoogo Y, Zhang DL, Crooks DR, et al. Serum ferritin is derived primarily from macrophages through a nonclassical secretory pathway. Blood 2010;116:1574-1584.
3. Millonig G, Muckenthaler MU, Mueller S. Hyperferritinemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. Hum Genomics 2010;4:250-262.