HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.

Simple item page
dc.contributor.authorShukla, Priyankaen_US
dc.contributor.authorJulka, Sandeepen_US
dc.contributor.authorBhatia, Eeshen_US
dc.contributor.authorShah, Sudeepen_US
dc.contributor.authorNagral, Aabhaen_US
dc.contributor.authorAggarwal, Rakeshen_US
dc.date.accessioned2006-01-31en_US
dc.date.accessioned2009-06-03T06:32:47Z
dc.date.available2006-01-31en_US
dc.date.available2009-06-03T06:32:47Z
dc.date.issued2006-01-31en_US
dc.description.abstractBACKGROUND: Primary haemochromatosis is characterized by iron overload in the body tissues. It is common in populations of northern European descent. In such populations, 85%-90% of patients with this disease have a C282Y mutation in the HFE gene. In India, the disease is uncommon and the genetic defects associated with it are unknown. We therefore looked for mutations in the HFE and other genes involved in iron metabolism in Indian patients with primary haemochromatosis. METHODS: Five patients (including a brother-sister pair) with primary haemochromatosis diagnosed on clinical, biochemical and histological findings were studied. Genomic DNA was analysed by sequencing for the presence of mutations in all the 6 exons of the HFE gene and for previously described mutations in genes encoding hepcidin antimicrobial peptide and ferroportin. RESULTS: No patient had the C282Y mutation. One had homozygous H63D mutation. No other mutation was found in any HFE exon. Two previously reported splice site mutations in the HFE gene (IVS3 + 1 G/T and IVS5+1 G/A) were not detected. Four of the 5 patients had an HFE splice site mutation (IVS2 + 4 T/C; homozygous 2, heterozygous 2); however, this change was as frequent in 29 healthy subjects (homozygous 9, heterozygous 7), and was present in only 1 of the sibling pair patients, indicating that this represented a polymorphism. No patient had any of the previously described mutations in the genes for hepcidin and ferroportin. CONCLUSION: Our patients with primary haemochromatosis lacked mutations in the HFE, hepcidin and ferroportin genes. Further genetic analysis may help identify novel mutations responsible for primary haemochromatosis in these patients.en_US
dc.description.affiliationDepartment of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.en_US
dc.identifier.citationShukla P, Julka S, Bhatia E, Shah S, Nagral A, Aggarwal R. HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis. National Medical Journal of India. 2006 Jan-Feb; 19(1): 20-3en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/119117
dc.language.isoengen_US
dc.source.urihttps://www.nmji.inen_US
dc.subject.meshAdulten_US
dc.subject.meshAntimicrobial Cationic Peptides --geneticsen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshCation Transport Proteins --geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHemochromatosis --geneticsen_US
dc.subject.meshHistocompatibility Antigens Class I --geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshIron --metabolismen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Proteins --geneticsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.titleHFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.en_US
dc.typeJournal Articleen_US
Files
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.79 KB
Format:
Plain Text
Description:
Download
Collections
National Medical Journal of India