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Article

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

The National medical journal of India - 1 Jan 2000

Shukla Priyanka, Julka Sandeep, Bhatia Eesh, Shah Sudeep, Nagral Aabha, Aggarwal Rakesh

Abstract excerpt

BACKGROUND: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16570681

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.PMID 16570681Read ↗

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Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.Semantic proximity Read ↗

Uncommon mutations and polymorphisms in the hemochromatosis gene.Semantic proximity Read ↗

Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis.Semantic proximity Read ↗

Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario.Semantic proximity Read ↗

Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.Semantic proximity Read ↗

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.Semantic proximity Read ↗

Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian populationSemantic proximity Read ↗

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