HFE rs1800562: Understanding the C282Y Variant and Iron Metabolism
The rs1800562 variant, frequently referred to as C282Y, is a well-studied genetic change in the HFE gene. It is primarily associated with hereditary hemochromatosis, a condition characterized by the body's inability to properly regulate iron absorption, leading to potential iron overload.
What each genotype means
Typical iron metabolism
This is the most common genotype, often referred to as the wild-type or reference sequence. Individuals with this genotype do not carry the C282Y mutation associated with hereditary hemochromatosis and are considered to have a baseline genetic risk profile for this condition.
Carried by the vast majority of the global population, though frequencies vary by ancestry.
HFE mutation carrier
You carry one copy of the C282Y mutation. Carriers typically do not develop iron overload, though they may have slightly higher iron markers than non-carriers; clinical expression is generally absent.
Carried by approximately 1 in 10 people of Northern European ancestry.
Increased iron overload risk
You are homozygous for the C282Y mutation, which is the primary genetic cause of hereditary hemochromatosis. While this genotype is strongly associated with elevated ferritin and transferrin saturation, not all individuals develop clinical disease; discuss your iron status and potential monitoring with your healthcare provider.
Found in approximately 1 in 200 to 1 in 500 individuals of Northern European descent.
What is the rs1800562 Variant?
The rs1800562 variant is a single nucleotide polymorphism (SNP) located within the HFE gene on chromosome 6. In scientific literature, this specific change is often called C282Y because it results in the substitution of the amino acid cysteine with tyrosine at position 282 of the HFE protein. This alteration is significant because it affects the structure and function of the protein, which is critical for maintaining iron homeostasis in the human body. While many genetic variants are neutral, rs1800562 is recognized as a primary genetic factor contributing to hereditary hemochromatosis. Because it is a common variant, it has been extensively studied in various populations to understand how it influences iron levels and the subsequent risk of iron-related health conditions.
The Role of the HFE Gene
The HFE gene provides instructions for making a protein that plays a central role in regulating iron absorption. This protein is expressed on the surface of cells and interacts with other molecules to monitor iron levels in the blood. By influencing the production of hepcidin, a master regulator of iron, the HFE protein helps ensure that the body absorbs the appropriate amount of iron from the diet. When the HFE gene carries the rs1800562 variant, the resulting protein may not function correctly. This dysfunction can lead to an inappropriate increase in intestinal iron absorption, even when the body's iron stores are already sufficient or elevated. Over time, this continuous, unregulated absorption can result in the accumulation of excess iron in organs such as the liver, heart, and pancreas, which may lead to clinical complications.
Research and Clinical Associations
Research has established a strong association between the rs1800562 variant and hereditary hemochromatosis. It is considered the most common genetic cause of this condition in populations of Northern European descent. However, it is important to note that the clinical penetrance of this variant is considered low. This means that many individuals who carry the variant, even those who are homozygous (carrying two copies), may never develop the severe clinical symptoms of iron overload. The development of the condition is often influenced by a combination of genetic factors, environmental influences, and lifestyle choices, such as alcohol consumption and diet. Because of this, the presence of the variant is not a definitive diagnosis of disease. Clinical evaluation, including blood tests for serum ferritin and transferrin saturation, is necessary to assess an individual's actual iron status.
Population Frequency
The rs1800562 variant is most prevalent in populations of Northern European ancestry, where carrier frequencies can range from 10% to 15%. In these populations, the variant is a significant focus of public health research due to its impact on iron metabolism. In contrast, the frequency of this variant is significantly lower in other global populations, such as those of Asian or African descent. Because of this uneven distribution, the clinical relevance of testing for this variant varies greatly depending on an individual's ancestral background. Large-scale studies, such as those conducted using the UK Biobank, continue to provide insights into how this variant affects health outcomes across diverse groups, helping researchers better understand the interplay between genetics and iron-related health.
What You Can Do With This Information
Understanding your genetic status regarding rs1800562 can provide context about your predisposition to iron-related conditions, but it should not be used for self-diagnosis. If you are concerned about your iron levels or have a family history of hemochromatosis, the most important step is to consult with a healthcare professional. A doctor can order appropriate biochemical tests to measure your actual iron stores and determine if any clinical intervention is necessary. Never attempt to manage iron levels through diet or supplements based solely on genetic results without medical guidance. If you have questions about how your genotype might influence your health, discuss these findings with your primary care physician or a genetic counselor, who can help interpret the results in the context of your overall health history.
How common is this variant?
The rs1800562 variant is most common in Northern European populations, with carrier frequencies reaching approximately 10% to 15%.
Frequently asked questions
Does having the rs1800562 variant mean I have hemochromatosis?
No, having the variant does not mean you have the disease. Many people with the variant never develop iron overload, and clinical diagnosis requires specific blood tests to measure iron levels.
Should I change my diet if I have this variant?
You should not make dietary changes based on genetic results alone. Consult your doctor to determine if your iron levels are actually high before considering any changes to your diet or supplement intake.
Is rs1800562 the same as C282Y?
Yes, rs1800562 is the unique identifier (rsID) used in scientific databases for the genetic change commonly referred to as C282Y in the HFE gene.
How is hereditary hemochromatosis treated?
The most common treatment for iron overload is therapeutic phlebotomy, which involves the regular removal of blood to reduce iron stores. This treatment is highly effective when managed by a medical professional.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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The Ser65Cys missense polymorphism in HFE linked to mild systemic iron regulation changes and downstream impacts on hypogonadotropic reproductive function.
The C282Y missense variant in HFE is the primary genetic cause of hereditary hemochromatosis, leading to iron overload.
Common HFE missense variant H63D associated with hereditary hemochromatosis and mild iron overload risk.
HFE p.His63Asp (H63D) variant contributing to hereditary hemochromatosis risk, especially in compound heterozygosity with C282Y.
Coding variant (p.Val162Met) in the homeostatic iron regulator gene studied alongside classical hemochromatosis variants.
Known as HFE S65C (c.193A>T), this missense variant is associated with mild variations in transferrin saturation and iron accumulation, often evaluated alongside C282Y and H63D.