What are the chromosomes and locations of this disorder?
Hemochromatosis is located on the HFE gene of the short arm (p) of chromosome 6 (Cytogenetic Location: 6p22.2). This gene is responsible for the producing a protein that exists on the surfaces of cells, mostly in the liver or intestinal cells. The protein is responsible for detecting the amount of iron that is in someone’s body. The HFE gene is also responsible for the creation and function of the hepcidin hormone, the largest iron regulatory hormone within the body. Hepcidin, determines how much iron should be absorbed from foods as well as how much iron should be released from the body’s storage. Mutations C282Y, H63D, and S65C are three of the most common areas of mutation that exist on the HFE gene that can produce hemochromatosis.
Who does this disorder affect?
Type 1 hemochromatosis is considered to be one of the most common genetic disorders in the United States. There are currently over 1 million people in America that have this disorder. Hemochromatosis is the most common within people of Northern European descent, but other gene combinations can be present in any ethnicity. Hemochromatosis is also more common in males than females. The other types of hemochromatosis are considered to quite rare have been studied only a limited amount.
What are some symptoms of this disorder?
Many people that have this disorder report lack of energy, weakness, abdominal pain, memory fog, loss of sex drive, heart flutters/irregular beats, and joint pain. Later signs or symptoms can include continued weakness/pain in bones and joints, liver disease, diabetes, heart irregularities, skin discoloration, impotence, and an enlarged spleen. Symptoms typically appear in males in their late 20’s to early 30’s. Women normally notice signs about 10-15 years after they have stopped having their period due to menopause or birth control methods. Many that see a physician with these symptoms are not necessarily tested for this disorder as it is a disorder that can be easily overlooked. Doctors used to believe that this was a rare disorder (some still do) and may test for other possible ailments for your symptoms instead. However, there is a large majority of people who never see or experience any symptoms from the disorder at all.
Will someone affected with this disorder have a normal life span?
Someone with this disorder will most likely be able to live a full, normal and happy life if it is discovered before the iron buildup in the major organs is too high to fix. If the disorder goes undetected, iron buildup in the body will shorten life span by hurting typical body functions and may cause death. Unless you develop the unlikely complications that can be associated with this disorder, many will be able to live as long as others their age. In the unlikely situation that you develop heart, liver, or gallbladder disease, cancer (1% chance even with blood over 1,000ng/ml of iron), diabetes, or one of a variety of neurodegenerative diseases because of hemochromatosis, one’s life span may have to adjusted to fit your new diagnosis.
Will someone affected with this disorder be able to attend school?
Someone that has this disorder will be able to attend school. Whether the disorder has been discovered during the early schooling years or not, it is highly unlikely that the iron buildup has increased to the point where a student would not be able to participate. The disorder itself will normally not keep someone out of school, but unfortunate complications because of the disorder (mentioned above) may be able too. With discovery that one has hemochromatosis, treatment and prevention of further progression is fairly simple.
Can the disorder be cured?
This disorder cannot be cured. You can never get rid of hemochromatosis, but it is very treatable and manageable. It can be detected through blood tests or cheek swabs. Someone with hemochromatosis will want to try to get iron levels within the body down to a normal degree. This can be done with therapeutic phlebotomy (TP), this treatment is just like blood donation, except for the fact that it requires a doctor's prescription. Donation requirements for your situation can range from 8 times a month to every 8 weeks. After their blood reaches a normal range (50-150ng/mg of iron) the individual may be able to reduce blood donation to once every 2 to 4 months for life, but these numbers vary based on their body’s absorption rate and their diet. Blood loses approximately 30ng/mg of iron for every 500cc of blood taken.
Will someone affected with this disorder be able to participate in extracurricular activities/sports/etc?
Someone will this disorder will be able to participate in extracurricular activities. When receiving treatment, the individual will be able to do anything that anyone else could. If the disorder has not been discovered in the individual yet, they still will likely be able to participate, just maybe not to the extent of others. Extracurricular participation hinges on the fact that they don’t develop any complications that can sometimes follow this disorder.
Will someone affected with this disorder be able to get and keep a career?
Hemochromatosis will likely not prevent anyone from getting a career. With early discovery and proper treatment before the iron buildup affects organs, they will be able to lead a normal life. If the disease goes undiscovered, the individual may have trouble keeping up with the performance of someone without it, considering the possible neurodegenerative issues. Further complications of this disorder can further impede in keeping a successful career.
Neither parent is affected with this disorder. How did my child get it?
If neither parent is affected with the disorder, but the child still has the disorder, both of the parents were most likely carriers of the gene mutation. Hemochromatosis follows an autosomal recessive pattern for types 1-3. This means that both parents have to carry a mutated gene for it to appear in the child. Only in type 4 hemochromatosis is one copy necessary for it to appear in the child, but again, this type is very rare as it follows an autosomal dominant inheritance pattern. Hemochromatosis exists on the HFE gene, within this gene, certain portions are responsible for the proper body function of iron regulation itself (described exact location at the beginning). When an individual inherits one mutated gene, they are know as a heterozygote or carrier. When the mutation occurs at the C282Y, H63D or S65C portion, they are seen as having a low risk for actually developing the disorder but still possess it in their genetics. This allows parents to carry on the mutation, never experience it’s effects, and still see the development of hemochromatosis within their children. Within one blood line, the disorder can skip generations and appear later down in the family tree depending on the genetics of the partners for each generation. Hemochromatosis can also be caused by certain environmental factors, many of them unknown, which cause a mutation to exist only in the child.
Is this disorder caused by a mutation on a chromosome? gene? If so, which ones ? What happens? How is it different from someone who is “normal”?
Hemochromatosis can be found in the HFE gene of the short arm (p) of chromosome 6 (Cytogenetic Location: 6p22.2). Mutations C282Y, H63D, and S65C are common areas of mutation that exist on the HFE gene which can produce hemochromatosis. The mutation exists on a gene within a chromosome. One can inherit one mutated gene from either parent, this is known as a heterozygote. When someone inherits the same mutation from both parents, they are known as a homozygote. If one inherits two mutated but different copies, they are referred to as a compound heterozygote. People with these mutations may never experience the effects of hemochromatosis, but can act as a carrier. Inheriting 2 abnormal genes allows you the possibility to develop hemochromatosis. Inheriting 1 mutated gene will allow you to be a carrier, but will not have hemochromatosis. Hemochromatosis is a recessive disorder. Within people that have hemochromatosis, specific nucleic acids are rearranged (possibly by insertion, deletion, duplication, or inversion), forming different codons and eventually new amino acids. These different amino acids form abnormal proteins than the normal person. The new or nonexistent proteins can affect the the typical functions that they usually carry out. With hemochromatosis it is iron removal and absorption. Individuals with hemochromatosis just have different iron regulating proteins and hormone levels then a normal person.
Will my child be able to have children? What’s the likelihood that my child will have a child born with this disorder as well?
People with hemochromatosis will be able to have children. 1 in 250 people of Northern European origin have the hemochromatosis gene. This means there is already a relatively low chance of the gene passing on considering both parents have to possess the trait. When two people, both with the abnormal gene have a child, there is a ¼th chance the child will have hemochromatosis, a ½th chance the child will not have hemochromatosis, but will be a carrier, and a ¼th chance the child will not inherit any abnormal gene. There is also type 4 hemochromatosis which only needs one abnormal gene for it to appear in the child and they will have hemochromatosis indefinitely, but this case is extremely rare.
What type of treatment ( if any ) is available to be able to reduce the long-term effects and improve life expectancy?
Therapeutic phlebotomy (TP) is a very easy and successful way to treat hemochromatosis. This form of bloodletting simply reduces the about of iron in the blood. With this form of consistent treatment, one will be typically able to reduce all of the long-term effects which will increase life expectancy. If complications have already occurred before starting treatment, they will have to handled on their own. Changing one’s diet will also greatly improve their condition. Heme iron is the most easily absorbed type of iron, this can be seen in high amounts within beef, venison, buffalo, lamb and blue fin tuna. Avoiding heme iron will help with the effects of hemochromatosis. Over the counter vitamin supplements containing iron should also be avoided.
Will this lead to any other problems?
These forms of treatment will not cause any real problems. Other than the immediate, quick passing feelings of lightheadedness or fatigue sometimes felt during bloodletting, nothing serious will occur from the treatment. Change one’s diet to limit iron intake may unfortunately result in the loss of a favorite food.
Is there any type of therapy that could improve his quality of life?
As described above, therapeutic phlebotomy and the changing of one’s diet can greatly improve the quality of life for an individual with hemochromatosis. Once iron levels are reduced to a normal level, someone with hemochromatosis will be able to function in everyday life just as any other individual, under the assumption no complications follow the diagnosis.
Would someone with this disorder be hospitalized on a regular basis?
Someone with hemochromatosis will not be hospitalized on a regular basis, they may never be hospitalized at all. Unless the condition of the individual becomes extremely dangerous from complications or extremely late detection, they will only visit the doctors to receive bloodletting treatment.
How common is this disorder?
It is estimated that over 1 million Americans have hemochromatosis. It affects males more than females. It is also more common to people of Northern European descent to which it is believed that 1 in 250 people have the hemochromatosis mutation. Type 1 hemochromatosis is the most common.
What are the odds that it can be developed in other family members?
Hemochromatosis almost always occurs, only under highly unlikely circumstances does it not, in an individual if two mutated genes are inherited, one from each parent. When two people, both with the mutated gene have a child, there is a ¼th chance the child will have hemochromatosis, a ½th chance the child will not have hemochromatosis, but will be a carrier, and a ¼th chance the child will not inherit any hemochromatosis gene. If one parent does not have the mutated gene, hemochromatosis will almost never appear in the child.
Is this disorder more common in people of a certain race or descent?
Hemochromatosis is most common in people of Northern European descent. People from this backgrough have a 1 in 250 chance of having the hemochromatosis gene. Hemochromatosis is regarded as one of the most common genetic disorders. Hemochromatosis is more common in this descent because of environmental influences that affected early generations and evolutions of these people.
Are there any dietary restrictions that would/can affect this disorder? If so, what?
People with hemochromatosis should avoid foods that are high in heme iron. Heme iron is found in high amounts in: beef, venison, buffalo, lamb and blue fin tuna. Heme iron is the easiest iron for the body to absorb. On top of avoiding large amounts of these foods, iron supplements should also be avoided. The reduction of iron in diets can improve the individual's overall well being and the reduction of the need to bloodlet.
Can you give us any good recommendations about support groups in the area?
There are not many hemochromatosis specific support groups that are near St. Charles IL. However, many genetic disease support groups accept members that have a variety of different disorders. On this website: https://groups.psychologytoday.com/rms/state/IL/Saint+Charles.html, people can find therpists and groups sessions which can help cope with having a genetic disorder. For more specific hemochromatosis support, people can turn to this online forem/blog website to receive advise from others like them: https://www.dailystrength.org/group/hemochromatosis.
What can we do to prevent symptoms?
Symptoms can be prevented through consistent and doctor suggested TP. Limiting red meat/iron supplement consumption will also help to reduce the need for TP and the improve the overall condition of the individual.
How costly will the treatment be annually?
Most blood banks will perform TP for $30.00 to $200.00 dollars, doctor offices from $200.00 to $400.00 and hospitals/outpatients from $400.00 to $1400.00 per treatment. Going two times a month, after the beginning of detection where you go more often, at a price $250.00 will cost $6000,00 dollars annually. Most of this will be covered by insurance however. Under specific circumstances, some blood banks are registered to use hemochromatosis blood as donor blood and thus, one may be treated completely free.
What medication/treatments will someone with this disorder have on a daily/weekly/monthly/yearly etc. timetable?
Someone with hemochromatosis may have to take part in TP up to 8 times a month near the beginning of when it was discovered that they had the disorder. After their iron levels reach the average, their visits for TP may be able to be reduced to every 8 weeks. They will likely continue this timeline for the rest of their life.
Does insurance cover this treatment?
It depends on the individual insurance company/policy as to whether they cover hemochromatosis. Insurance and Medicare typically do not cover blood bank TP treatments, yet both usually cover treatment at doctor’s offices.
Are there doctors who specialize in the treatment of this disorder?
A hematologist specializes in conditions that exist in the blood. They would probably be the highest expert someone could see with hemochromatosis along with a hepatologist. Many do not need this level of expertise to be treated and are fine seeing other, more general doctors.
What research, if any, is being done on this disorder?
Since the discovery of the HFE gene in this disorder, screening and understanding of this disorder have increased large amounts in recent history. Currently many organizations are hosting clinical trials for possible future treatments. With hemochromatosis being one of the most common genetic disorders, there is a large call to scientists to learn more information about this disorder. http://www.hemochromatosis.org, one of the leading institutes in iron disorders is paving the way for research. With great genetic headway, this institute accepts donations and hosts events to raise money.
Are there any advancements being made due to gene therapy for this disorder?
Since hemochromatosis is so localized within a specific gene, the use of gene therapy has the chance to cure people easier than what is possible with many other genetic disorders. The inhibition of DMT1 synthesis has been shown to help with the prevention of the collection of excess iron in the body. This process of changing the behavior of transferrin receptor II is proving to be successful in recent trials. Hereditary hemochromatosis provides scientists with an good test subject to try out different gene therapy ideas that may one day change hemochromatosis and other disorders in the future.
How do I help my child cope with the social and emotional aspects of this disorder?
When detected early, your child will likely not experience any social or emotional issues because of this disorder. Unless your child develops complications or is detected late, they should lead a normal life. You child will likely have to get over the possible fear of blood as consistent TP will become part of their life. If your child is having trouble, find them a online/in person genetic disorder support group or therapist (resources in earlier question).
How does this disorder affect a person’s cognitive capabilities?
When detected early and followed with constant TP treatment, one’s cognitive capabilities will not be affected. If the disorder is not detected until later in life, serious cognitive complications can occur. Neurodegenerative diseases like Alzheimer's, early onset Parkinson's, epilepsy, multiple sclerosis and Huntington's disease have all been tied to hemochromatosis. Iron build up in the brain over a long period of time can harm proper function.
Will someone affected with this disorder need to live in a facility or can they live at home?
Someone with hemochromatosis will be able to lead a normal life at home if they have been receiving consistent treatments and were detected early. If complications, such as the neurodegenerative diseases above occur from hemochromatosis, then further assistance and facilities will likely be needed. Parkinson’s can be extremely detrimental to the individual and they will struggle to survive in a home on their own if that disease occurs as a result.