Hemochromatosis

What is hemochromatosis?

Hemochromatosis is the most common form of iron overload disease. Primary hemochromatosis, also called hereditary hemochromatosis, is an inherited disease. Secondary hemochromatosis is caused by anemia, alcoholism, and other disorders.
Juvenile hemochromatosis and neonatal hemochromatosis are two additional forms of the disease. Juvenile hemochromatosis leads to severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30. The neonatal form causes rapid iron buildup in a baby’s liver that can lead to death.

Excess iron is stored in body tissues, specifically the liver, heart, and pancreas.
Hemochromatosis causes the body to absorb and store too much iron. The extra iron builds up in the body’s organs and damages them. Without treatment, the disease can cause the liver, heart, and pancreas to fail.
Iron is an essential nutrient found in many foods. The greatest amount is found in red meat and iron-fortified breads and cereals. In the body, iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues.
Healthy people usually absorb about 10 percent of the iron contained in the food they eat, which meets normal dietary requirements. People with hemochromatosis absorb up to 30 percent of iron. Over time, they absorb and retain between five to 20 times more iron than the body needs.
Because the body has no natural way to rid itself of the excess iron, it is stored in body tissues, specifically the liver, heart, and pancreas.

What causes hemochromatosis?

Hereditary hemochromatosis is mainly caused by a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food. The two known mutations of HFE are C282Y and H63D. C282Y is the most important. In people who inherit C282Y from both parents, the body absorbs too much iron and hemochromatosis can result. Those who inherit the defective gene from only one parent are carriers for the disease but usually do not develop it; however, they still may have higher than average iron absorption. Neither juvenile hemochromatosis nor neonatal hemochromatosis are caused by an HFE defect. Juvenile and neonatal hemochromatosis are caused by a mutation in a gene called hemojuvelin.

What are the risk factors of hemochromatosis?

Hereditary hemochromatosis is one of the most common genetic disorders in the United States. It most often affects Caucasians of Northern European descent, although other ethnic groups are also affected. About five people out of 1,000—0.5 percent—of the U.S. Caucasian population carry two copies of the hemochromatosis gene and are susceptible to developing the disease. One out of every 8 to 12 people is a carrier of one abnormal gene. Hemochromatosis is less common in African Americans, Asian Americans, Hispanics/Latinos, and American Indians.
Although both men and women can inherit the gene defect, men are more likely than women to be diagnosed with hereditary hemochromatosis at a younger age. On average, men develop symptoms and are diagnosed between 30 to 50 years of age. For women, the average age of diagnosis is about 50.

What are the symptoms of hemochromatosis?

Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed.
If the disease is not detected and treated early, iron may accumulate in body tissues and eventually lead to serious problems such as

• arthritis
• liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
• damage to the pancreas, possibly causing diabetes
• heart abnormalities, such as irregular heart rhythms or congestive heart failure
• impotence
• early menopause
• abnormal pigmentation of the skin, making it look gray or bronze
• thyroid deficiency
• damage to the adrenal glands

How is hemochromatosis diagnosed?

A thorough medical history, physical examination, and routine blood tests help rule out other conditions that could be causing the symptoms. This information often provides helpful clues, such as a family history of arthritis or unexplained liver disease.

• Blood tests can determine whether the amount of iron stored in the body is too high. The transferrin saturation test reveals how much iron is bound to the protein that carries iron in the blood. Transferrin saturation values higher than 45 percent are considered too high.
• The total iron binding capacity test measures how well your blood can transport iron, and the serum ferritin test shows the level of iron in the liver. If either of these tests shows higher than normal levels of iron in the body, doctors can order a special blood test to detect the HFE mutation, which will confirm the diagnosis. If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup and the doctor will look for other causes.
• A liver biopsy may be needed, in which case a tiny piece of liver tissue is removed and examined with a microscope. The biopsy will show how much iron has accumulated in the liver and whether the liver is damaged.

Hemochromatosis is considered rare and doctors may not think to test for it. Thus, the disease is often not diagnosed or treated. The initial symptoms can be diverse, vague, and mimic the symptoms of many other diseases. The doctors also may focus on the conditions caused by hemochromatosis—arthritis, liver disease, heart disease, or diabetes—rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life.
Hemochromatosis is usually treated by a specialist in liver disorders called a hepatologist, a specialist in digestive disorders called a gastroenterologist, or a specialist in blood disorders called a hematologist. Because of the other problems associated with hemochromatosis, other specialists may be involved in treatment, such as an endocrinologist, cardiologist, or rheumatologist. Internists or family practitioners can also treat the disease.

How is hemochromatosis treated?

Treatment is simple, inexpensive, and safe. The first step is to rid the body of excess iron. This process is called phlebotomy, which means removing blood the same way it is drawn from donors at blood banks. Based on the severity of the iron overload, a pint of blood will be taken once or twice a week for several months to a year, and occasionally longer. Blood ferritin levels will be tested periodically to monitor iron levels. The goal is to bring blood ferritin levels to the low end of normal and keep them there. Depending on the lab, that means 25 to 50 micrograms of ferritin per liter of serum.
Once iron levels return to normal, maintenance therapy begins, which involves giving a pint of blood every 2 to 4 months for life. Some people may need phlebotomies more often. An annual blood ferritin test will help determine how often blood should be removed. Regular follow-up with a specialist is also necessary.
If treatment begins before organs are damaged, associated conditions—such as liver disease, heart disease, arthritis, and diabetes—can be prevented. The outlook for people who already have these conditions at diagnosis depends on the degree of organ damage. For example, treating hemochromatosis can stop the progression of liver disease in its early stages, which leads to a normal life expectancy. However, if cirrhosis, or scarring of the liver, has developed, the person’s risk of developing liver cancer increases, even if iron stores are reduced to normal levels.
People with complications of hemochromatosis may want to receive treatment from a specialized hemochromatosis center. These centers are located throughout the country.
People with hemochromatosis should not take iron or vitamin C supplements. And those who have liver damage should not consume alcoholic beverages or raw seafood because they may further damage the liver.
Treatment cannot cure the conditions associated with established hemochromatosis, but it will help most of them improve. The main exception is arthritis, which does not improve even after excess iron is removed.

How is hemochromatosis tested?

Screening for hemochromatosis—testing people who have no symptoms—is not a routine part of medical care or checkups. However, researchers and public health officials do have some suggestions.

• Siblings of people who have hemochromatosis should have their blood tested to see if they have the disease or are carriers.
• Parents, children, and other close relatives of people who have the disease should consider being tested.
• Doctors should consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes, impotence, and diabetes because these conditions may result from hemochromatosis.

Since the genetic defect is common and early detection and treatment are so effective, some researchers and education and advocacy groups have suggested that widespread screening for hemochromatosis would be cost-effective and should be conducted. However, a simple, inexpensive, and accurate test for routine screening does not yet exist and the available options have limitations. For example, the genetic test provides a definitive diagnosis, but it is expensive. The blood test for transferrin saturation is widely available and relatively inexpensive, but it may have to be done twice with careful handling to confirm a diagnosis and show that the result is the consequence of iron overload.

Hope through Research

Scientists hope further study of the HFE gene will reveal how the body normally metabolizes iron. They also want to learn how iron injures cells and contributes to organ damage in other diseases, such as alcoholic liver disease, hepatitis C, porphyria cutanea tarda, heart disease, reproductive disorders, cancer, autoimmune hepatitis, diabetes, and joint disease.
Scientists are working to find out why only some patients with HFE mutations develop the disease. In addition, hemochromatosis research includes the following areas:
Genetics. Researchers are examining how the HFE gene normally regulates iron levels and why not everyone with an abnormal pair of genes develops the disease.
Pathogenesis. Scientists are studying how iron injures body cells. Iron is an essential nutrient, but above a certain level it can damage or even kill cells.
Epidemiology. Research is underway to explain why the amounts of iron people normally store in their bodies differ. Research is also being conducted to determine how many people with the defective HFE gene go on to develop symptoms and why some people develop symptoms and others do not.
Screening and testing. Scientists are working to determine at what age testing is most effective, which groups should be tested, and which are the best tests for widespread screening.

Mutant sperm guide clinicians to new diseases

Disease, DNA, deletions and duplications in human sperm

Human sperm:

Research published today in Nature Genetics shows that some rearrangements of the human genome occur more frequently than previously thought. The work is likely to lead to new identification of genes involved in disease and to improve diagnosis of genomic disease.
The scientists from the Wellcome Trust Sanger Institute looked at four unstable regions in the genome where rearrangements cause genetic diseases, so-called 'genomic disorders', and found that some of these rearrangements were found in sperm much more frequently than expected.
The team, led by Dr Matt Hurles, showed that losses or duplication of 'chunks' of the human genome occurred frequently in apparently healthy people. These losses or gains of DNA regions are called Copy Number Variants (CNVs), and can be found all over the genome in every individual.
Some of the mechanisms thought to produce CNVs would be expected to produce about one duplication for every deletion: however, clinical records for genomic disorders show only a few duplications, compared with hundreds of deletions.

" These are unfortunate accidents of the essential shuffling of our genetic deck of cards, a process essential to human life. "

Dr Matt Hurles

"There was no direct, global measure of the relative rate at which human DNA is gained or lost, a study that requires many thousands of human genomes," explained Dr Matt Hurles, Investigator at the Wellcome Trust Sanger Institute, "so we carried out a study on four clinically important regions using human sperm cells as our population of genomes. 
"Sperm cells give us an unbiased snapshot of CNVs: using our new highly-sensitive assays we can detect one rearrangement in a million cells."
The team looked at regions known to be affected by rearrangement in Williams-Beuren Syndrome, Charcot-Marie-Tooth disease Type 1A, Smith-Magenis Syndrome, and a deletion (AZFa) that causes male infertility. Their study showed that duplications are about half as frequent as deletions. By contrast, the two types of CNV are similarly common in healthy adults, suggesting that some deletions are too detrimental for the genome to tolerate.
"It is likely that deletions are more harmful than duplications, perhaps because a vital gene is removed, and so less likely to survive," explained Dr Hurles. "However, for some of the genomic regions we looked at, duplications can cause milder symptoms. Perhaps we can improve diagnosis with improved understanding of the possible consequences of duplications."
In Williams-Beuren Syndrome, loss of a genomic region (which can vary in size) can have very severe effects, including narrowing of arteries, facial and other skeletal deficiencies and impaired mental development. By contrast, duplications of the same regions have a milder effect, resulting most commonly in delay of speech development. With the results of this study, the team suggest that improved diagnosis might result from examining speech-delay for CNVs in this region.
"Although some of these CNVs arise much more frequently than anyone thought, they are still comfortingly rare: we see them in about 1 in 50,000 sperm cells," explained Dr Hurles. "These are unfortunate accidents of the essential shuffling of our genetic deck of cards, a process essential to human life. We need a new deal for each new person."
The method should also be able to detect rearrangements where none was suspected and to predict new disease-causing variants. Indeed one of the duplications that was detected in sperm has not yet been observed in the clinic, and yet it can be expected to cause disease, because smaller duplications of the same region cause Potocki-Lupski syndrome. Clinical genetics usually proceeds from observations in a patient down a long road to identify the gene involved. The new CNV work opens a new and possibly quicker, route of using new mutations found in sperm to lead to disease-causing mutations in patients.
In their work in 2006, the team has developed the CNV map for apparently healthy people: many of these are unlikely to cause disease. By looking across the entire genome for novel CNVs in human sperm, they will be able to predict where CNVs are likely to play a possible undiscovered role. In this 'reverse genetics', the new methods move from genome to prediction of consequences for patients.

Weight loss

Weight loss is typically recommended for people who are 20 or more pounds overweight. Being overweight can lead to diabetes, heart attack, stroke, early death, and complicate pregnancy. Those who are significantly overweight complain of joint and foot pain, foot disfigurement from an inability to find proper shoes, and chronic fatigue.

Weight problems can have various contributing factors, most of which has to do with lifestyle and the ability to make healthy choices. Snack foods, preprocessed foods, and candy are all contributors of weight problems. While it is true that thyroid problems can contribute to obesity, thyroid problems can be medicated. Some prescription medications cause significant weight gain such as prednisone, and other medications such as antidepressants.

The majority of obese people are victims of diet. Eating too much, having little to no education on what the food groups are and how they impact weight, and making chronically poor choices are often issues that are handed down from one generation to another. Children who come from obese households run a very high risk of becoming obese themselves. Often doctors will encourage overweight patients to lose weight. Weight indicator charts allow both physicians and patients see exactly where a patient’s body weight should be by figuring in their age and height. Overweight people are at risk for complications regarding their overall health. Heart attacks and strokes lead the list, but other complications exist such as kidney problems, joint problems, breathing problems, and breast problems in women. Underweight people are at risk for serious health issues as well, including osteoporosis, the inability to fight infection, the inability to regulate body temperature, and even death. Obese treatments vary, and most doctors still insist that the absolute best way to fight obesity is to reduce caloric intake and increase caloric output. Burning more calories than a person puts in invariably leads to weight loss. While the media has barraged television and magazine viewers with magic diet pills that will peel the pounds off for you, the Mayo Clinic studies have found no conclusive evidence that these pills do anything. Weight loss supplements, drinks, prepackaged foods, workout DVDs, surgically reducing the size of the stomach, and weight loss programs are all weight loss ideas that have become part of Americana. Some work reasonably well while others have not been proven to enhance permanent weight loss. Anything that promotes the burning of energy such as exercise DVDs has potential. Prepackaged weight loss meals teach people how to make better choices, and group programs help people stay in the program. Unintentional weight loss may be the result of an illness or depression. Diagnosing the problem is the key to stopping the weight loss and encouraging healthy body weight. Unintentional weight loss that can be attributed to lack of appetite may be caused by medication. Many people who have lost weight unintentionally do not wish to gain the weight back. Losing weight is a struggle, and patients need to be motivated in order to be successful. They need to stop believing the media hype that promises weight loss of unreasonable weight in very short amounts of time. Dropping too much weight in a short time is not healthy. Real weight loss comes from a dedicated effort to chronically make healthy food choices and exercising regularly. Patients need to set reasonable goals for themselves and ask for their physician’s assistance in the best weight loss program for them. Underweight individuals need to recognize that they are unhealthy and learn to manage their weight issues with more care, without just eating high calorie, high fat foods. Coping with weight issues can be a chronic lifetime struggle. Every time the patient exercises and makes good choices, they are winning the battle. Every time they can see the results on a scale or when they put their clothes on, they receive positive feedback. Positive feedback reinforces the positive behavior.

Addiction

There is a significant difference between a drug addiction and a drug dependency. Addiction is a mental and physical dependency on a substance while dependency is the body’s natural response to having a medication introduced for a period of time, which creates the body’s belief that it needs the substance to function normally.

Unfortunately, it can be very difficult to spot a drug addiction is someone in the earliest and most treatable stages. The signs and symptoms of drug addiction include but are certainly not limited to mood swings, withdrawal, weight loss (sometimes weight gain when marijuana is the drug of choice) lying, unexplained absence from work or school, drastic behavioral changes, and discoloration of skin. However, crystal methamphetamine user will show severe physical changes in very short periods of time including sudden and extreme tooth decay, severe weight loss, and sores all over their skin and face where they have picked or cut themselves believing they had to remove something from under their skin.


Anyone can have an addiction to drugs, whether it is street drugs or prescription medication. There are people who are more susceptible, but t. Risk factors for drug addiction are both typical and atypical. Teens with addictive personalities who are experiencing severe stress are more likely to try and become addicted to drugs. Often unsupervised teens are likely to try drugs, and may or may not end up addicted to them. Depression is the most common cause of drug addiction. Drug use can alter the reality long enough to provide temporary relief from a problem or unhappy life. Other people such as home makers, professionals, and doctors are at risk due to boredom, depression, or extreme pressure to stay awake and perform on command. People who are introduced to drugs by their friends are likely to continue in their company and eventually begin drug use alone.

Drug use can be detected when behaviors are suspicious and a blood or urine test can be used to determine whether the behaviors are drug related. Most drugs stay in the system anywhere from three days to three months, depending on the drug. Often addicts can be confronted in a hospital setting and will simply admit to drug use and provide a list of drugs which they have used within the last six months to a year.

Untreated drug addiction can lead to serious complications including loss of employment or dropping out of school, crime, jail time, severe illness, homelessness, and death. Not all drug addictions end up with such serious consequences, which can make it harder to convince a drug addict to quit. Some drug addicts have been able to negotiate the world while maintaining their drug addiction.

Drug addiction treatment varies, but most people with a drug addiction do need to spend at least thirty days in a rehabilitation facility. There are medications that can help to interrupt the addiction process by alleviating the pleasure associated with drug use. Many drug users are prescribed a daily dose of methadone, a prescription drug which is also addictive. The theory is that is the symptoms of withdrawal from street drugs or painkillers can be alleviated, the source of the drug addiction can be treated and then the dose of methadone can gradually be reduced. Methadone allows the drug addict to function normally while receiving treatment. Therapy and counseling are an intimate part of recovery. Without adequate treatment, drug users are likely to relapse. Therapy and rehabilitation facilities are part of the treatment plan.

The addict needs to have a desire to quit the drug use he or she has become so dependant upon. Without a desire, the addict is likely to relapse at the first available opportunity. Many drug addicts have to find themselves in nearly intolerable pain before deciding to deal with their drug addiction.

Coping with drug use requires counseling for the addict as well as the family members and those affected by the chronic drug use. In therapy, friends and family members will learn to lovingly set limits in dealing with an addict’s drug use.