Hemochromatosis is a condition where the body absorbs an excessive amount of iron, leading to an unhealthy buildup in various organs and tissues. This iron overload can cause damage over time if not managed. It is primarily a genetic condition, passed down through families.
Genetic Basis
Hereditary hemochromatosis, the most common form, follows an autosomal recessive inheritance pattern. This means an individual must inherit two copies of a mutated gene, one from each parent, to develop the condition. The HFE gene is most frequently associated with this condition.
Two common mutations within the HFE gene, C282Y and H63D, are responsible for the majority of cases. The C282Y mutation is prevalent in individuals of Northern European descent. To develop hemochromatosis, one typically needs to inherit two copies of the C282Y mutation (C282Y/C282Y), or one C282Y and one H63D mutation (C282Y/H63D).
Individuals who inherit only one copy of a mutated HFE gene, such as C282Y or H63D, are considered carriers. Carriers generally do not develop iron overload themselves, but they can pass the mutated gene to their children. If two carriers have children, their offspring have a probability of inheriting the condition.
Assessing Your Personal Risk
If your brother has hereditary hemochromatosis, this provides significant information about your own genetic risk. Since it is an autosomal recessive condition, both of your parents must have contributed a mutated HFE gene to him. This means both parents are at least carriers, or one parent has the condition and the other is a carrier.
Given that both parents are at least carriers, each child has a 25% chance of inheriting two mutated copies and developing the condition. This means you have a one in four chance of having hereditary hemochromatosis if both your parents are carriers.
Each child also has a 50% chance of inheriting one mutated copy and becoming a carrier. You could be a carrier without symptoms, but still pass the gene to future generations. There is also a 25% chance of inheriting two normal copies of the HFE gene, meaning you would neither have the condition nor be a carrier.
These probabilities emphasize the importance of family history in assessing your personal risk. Your brother’s diagnosis indicates that genetic testing and counseling would be beneficial. Genetic counseling can help interpret your family’s genetic profile and clarify your individual risk.
Diagnostic Procedures
Diagnosing hemochromatosis typically begins with blood tests to assess iron levels. Initial screening tests include serum ferritin and transferrin saturation. Serum ferritin measures the amount of iron stored in the body; elevated levels often indicate iron overload.
Transferrin saturation measures the percentage of transferrin, a protein that transports iron in the blood, that is saturated with iron. An elevated transferrin saturation, particularly above 45%, can indicate increased iron absorption. These blood tests serve as a useful screening tool for iron overload.
If initial blood tests suggest iron overload, genetic testing for HFE gene mutations is usually the next step. This test looks for the C282Y and H63D mutations. A positive genetic test for two C282Y copies (C282Y/C282Y) or a compound heterozygote (C282Y/H63D) confirms hereditary hemochromatosis.
Other diagnostic procedures may be considered if organ damage is a concern or genetic test results are inconclusive. These can include liver biopsies to assess iron accumulation and damage in liver tissue. However, genetic testing remains the most definitive and non-invasive method for confirming hereditary hemochromatosis.
Living with Hemochromatosis
The primary treatment for hemochromatosis is therapeutic phlebotomy, which involves regularly removing blood from the body. Similar to donating blood, this procedure effectively reduces iron levels by removing iron-rich red blood cells. Phlebotomy frequency varies depending on iron levels, with more frequent sessions initially to reduce stores, followed by maintenance to keep levels healthy.
Dietary considerations also play a role in managing hemochromatosis, although phlebotomy is the main treatment. Individuals should avoid iron supplements and multivitamins containing iron. It is also recommended to limit iron-rich foods and avoid vitamin C supplements with iron-rich meals, as vitamin C enhances iron absorption.
Raw shellfish should be avoided due to the risk of bacterial infections, which can be more severe with iron overload. Ongoing monitoring of iron levels through regular blood tests ensures phlebotomy treatments are effective and allows treatment schedule adjustments. Regular check-ups with a healthcare provider are essential to monitor for complications from iron accumulation.