Meyahealth
HomeGeneticsGeneHAMP gene
Back to Gene
HAMP gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

HAMP gene

The HAMP gene provides instructions for producing hepcidin, a liver-derived protein that acts as a master regulator of iron balance in the body.

Normal Function

The HAMP gene provides instructions for the production of a protein called hepcidin. Hepcidin, which is produced primarily in the liver, plays a major role in maintaining iron balance in the body. When blood iron levels are high, iron enters liver cells and triggers them to increase production of hepcidin. Hepcidin then circulates in the blood and stops iron absorption in the small intestine when the body's supply of iron is too high.

Hepcidin interacts primarily with other proteins in the small intestine, liver, and certain white blood cells to adjust iron absorption and storage. In this way, an appropriate balance of iron (iron homeostasis) is maintained and iron absorption is adjusted to reflect the body's needs.

Health Conditions Related to Genetic Changes

Hereditary hemochromatosis

At least 14 mutations in the HAMP gene can cause type 2 hemochromatosis, a form of hereditary hemochromatosis that begins during childhood or adolescence. Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron accumulates in, and eventually damages, the body's tissues and organs.

Mutations in the HAMP gene result in the production of abnormal hepcidin with decreased function. This altered hepcidin cannot stop iron absorption, even when the body has sufficient supplies of iron. As a result, tissues and organs become overloaded with iron, especially the liver and the heart, leading to organ damage in hereditary hemochromatosis.

Other Names for This Gene

  • HEPC
  • HEPC_HUMAN
  • Hepcidin
  • HFE2B
  • LEAP-1
  • LEAP1
  • Liver-expressed antimicrobial peptide
  • PLTR
  • Putative liver tumor regressor

Genomic Location

The HAMP gene is found on chromosome 19.

Frequently Asked Questions

definitive diagnosis requires genetic testing of the HAMP gene, usually performed through a blood sample sent to a specialized laboratory. Prior to testing, a clinician will order serum ferritin, transferrin saturation, and liver function tests to assess iron overload. The genetic test identifies specific pathogenic variants that impair hepcidin production.
Key strategies include limiting iron-rich foods (especially red meat), avoiding vitamin C supplements taken with meals (which enhance iron absorption), and steering clear of alcohol or iron-fortified products. Regular monitoring of ferritin and transferrin saturation helps gauge effectiveness. If iron overload is significant, therapeutic phlebotomy (blood removal) is the mainstay treatment to reduce iron stores safely.
Early symptoms often include fatigue, joint pain, abdominal discomfort, and unexplained weight loss. As iron overload progresses, patients may develop liver enlargement, skin bronzing, and heart rhythm disturbances. If you notice persistent fatigue or abdominal pain, especially if you have a family history of iron disorders, it is worth discussing iron studies with your clinician.
HAMP mutations are inherited in an autosomal recessive manner, meaning both copies of the gene must be affected for disease to manifest. If one parent carries a mutation, each child has a 50% chance of being a carrier and a 25% chance of being affected. Genetic counseling is recommended for families to understand risks and consider testing for relatives.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ