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.

Hepatitis B

What is it?

Hepatitis B is a virus that can cause a potentially dangerous infection of the liver.

The infection is spread through blood-to-blood infection and through unprotected sex.

It is the ninth most common cause of death worldwide, killing about two million people a year.

In Europe alone about one million people become infected each year.

What are the symptoms?

The incubation period before the symptoms start to develop can be anything between six weeks and six months.

In about a third of cases people with the disease will show no symptoms; in the second third the illness will cause mild flu-like symptoms with headache, fever loss of appetite, nausea and vomiting.

But in the rest of cases the illness can be very severe with patients developing abdominal pain, diarrhoea and jaundice.

In the most severe cases patients will develop rapid liver failure, which may need a life-saving liver transplant.

How can I avoid Hep B?

The disease is most common in the Far East, the Middle East, Africa and Southern Europe.

But travellers can also protect themselves by avoiding unprotected sex, by not sharing contaminated needles and ensuring that any tattoos, body piercing or acupuncture are only carried out in reputable salons.

Should I get the vaccination?

There is an effective vaccine, available from GPs and travel clinics, which can protect travellers from Hepatitis B infection.

Vaccination is usually advised if a member of your family or household becomes infected with the virus. Hepatitis B is considered an occupational hazard for healthcare workers, the emergency services and the police.

Hepatitis A

What is Hepatitis A?

Hepatitis A is a viral infection of the liver. It is estimated to affect up to 10 million people worldwide each year and is spread through contaminated food and water.

The virus is found in the faeces of an infected person and is spread through poor hygiene, such as failing to wash your hands after going to the toilet.

What are the symptoms?

The incubation period before symptoms develop is usually a month.

Symptoms can vary from no signs of illness, to a flu-like illness, jaundice, headache, fever, loss of appetite, nausea and vomiting.

Children getting the disease will seldom become ill and once infected will carry a life-long immunity against the disease.

The older a person is, the more serious the disease can be. About one per cent of people with Hepatitis A will suffer from liver failure and some of these people will die.

Where am I most at risk?

The area where travellers are most at risk of contracting Hepatitis A is the Indian sub-continent, although there are also some cases from South-East Asia, Africa and South America.

How can I protect myself?

There is a highly effective vaccine against Hepatitis A, which is available from GP surgeries and travel clinics. This is recommended for travellers going to high-risk countries.

Travellers should try and avoid the disease by ensuring a high level of personal hygiene, avoiding raw or inadequately cooked salads, vegetables, unpasteurised milk and shellfish and checking whether the tap water is safe to drink.

Water Borne diseases

Water-borne diseases are any illness caused by drinking water contaminated by human or animal faeces, which contain pathogenic microorganisms.
The full picture of water-associated diseases is complex for a number of reasons. Over the past decades, the picture of water-related human health issues has become increasingly comprehensive, with the emergence of new water-related infection diseases and the re-emergence of ones already known. Data are available for some water-, sanitation- and hygiene-related diseases (which include salmonellosis, cholera, shigellosis), but for others such malaria, schistosomiasis or the most modern infections such legionellosis or SARS CoV the analyses remain to be done.
The burden of several disease groups can only partly be attributed to water determinants. Even where water plays an essential role in the ecology of diseases, it may be hard to pinpoint the relative importance of aquatic components of the local ecosystems.

Dimension of the problem

In developing countries four-fifths of all the illnesses are caused by water-borne diseases, with diarrhoea being the leading cause of childhood death.

The global picture of water and health has a strong local dimension with some 1.1 billion people still lacking access to improved drinking water sources and some 2.4 billion to adequate sanitation. Today we have strong evidence that water-, sanitation and hygiene-related diseases account for some 2,213,000 deaths annually and an annual loss of 82,196,000 Disability Adjusted Life Years (DALYs) (R. Bos, Dec. 2004).

WHO estimates indicate that worldwide over 2 billion people are infected with schistosomes and soil transmitted helminthes and 300 million of these suffer serious illness as a result.
Malaria kills over a million people every year, and a large percentage of them are under five as well, mainly in Africa South of the Sahara. In 2001 the estimated global burden of malaria amounted to 42.3 million DALYs, constituting 10 % of Africa’s overall disease burden. Malaria causes at least 396.8 million cases of acute illness each year. Pregnant women are the main adult risk group. As one of the major public health problems in tropical countries, it has been claimed that malaria has reduced economic growth in African countries by 1.3 % each year over the past 30 years (*).

An estimated 246.7 million people worldwide are infected by schistomiasis, and of these 20 million suffer severe consequences of the infection, while 120 million suffer milder symptoms. An estimated 80% of transmission takes place in Africa south of the Sahara (*).

Diarrhoea occurs worldwide and causes 4% of all deaths and 5% of the health loss to disability.

In Bangladesh alone, some 35 million people are exposed, on a daily basis, to elevated levels of arsenic in their drinking water, which will ultimately threaten their health and shorten their life expectancy.

After the Tsunami attack in Asia on Sunday the 26^th of December 2004 people faced the threat of water borne diseases linked to flooding, like Shigellosis, Cholera, Hepatitis A, Leptospirosis, Typhoid Fever, Malaria and Dengue fever.

Source 'Global Water Supply and Sanitation Assessment 2000 Report', section 2.2, WHO 2000

Transmission

Water borne diseases spread by contamination of drinking water systems with the urine and faeces of infected animal or people.

This is likely to occur where public and private drinking water systems get their water from surface waters (rain, creeks, rivers, lakes etc.), which can be contaminated by infected animals or people. Runoff from landfills, septic fields, sewer pipes, residential or industrial developments can also sometimes contaminate surface water.

This has been the cause of many dramatic outbreaks of faecal-oral diseases such as cholera and typhoid. However, there are many other ways in which faecal material can reach the mouth, for instance on the hands or on contaminated food. In general, contaminated food is the single most common way in which people become infected.

The germs in the faeces can cause the diseases by even slight contact and transfer. This contamination may occur due to floodwaters, water runoff from landfills, septic fields, and sewer pipes.

The following picture shows the faecal-oral routes of diseases transmission.

The only way to break the continued transmission is to improve the people’s hygienic behaviour and to provide them with certain basic needs: drinking water, washing and bathing facilities and sanitation. Malaria transmission is facilitated when large numbers of people sleep outdoors during hot weather, or sleep in houses that have no protection against invading mosquitoes. Malaria mosquitoes, tropical black flies, and bilharzias snails can all be controlled with efficient drainage because they all depend on water to complete their life cycles.

Prevention

Clean water is a pre-requisite for reducing the spread of water-borne diseases. It is well recognised that the prevalence of water-borne diseases can be greatly reduced by provision of clean drinking water and safe disposal of faeces.
Water is disinfected to kill any pathogens that may be present in the water supply and to prevent them from growing again in the distribution systems. Disinfection is then used to prevent the growth of pathogenic organisms and to protect public health and the choice of the disinfect depends upon the individual water quality and water supply system.
Without disinfection, the risk from waterborne disease is increased.
The two most common methods to kill microorganisms in the water supply are: oxidation with chemicals such as chlorine, chlorine dioxide or ozone and irradiation with Ultra-Violet (UV) radiation.

Hepatitus A E

Hepatitis A

Hepatitis A is usually transmitted by drinking water or eating food that has been contaminated with fecal matter containing the virus. Thus, the risk of contracting hepatitis A generally depends on the hygenic and sanitary conditions in a given area. The Centers for Disease Control estimates that 150,000 people in the United States are infected each year by hepatitis A, a low rate compared to the underdeveloped countries. There are two approved vaccines available in the U.S. for protection against hepatitis A.

As is common with the other forms of viral hepatitis, the infected person may not have any symptoms. When they do occur, symptoms resembling the flu normally appear during the first four weeks of infection. These include fatigue, nausea, vomiting, pain in the liver area, dark urine or light colored stools and fever. Liver function tests are elevated, with many adults developing jaundice. Most people recover from the hepatitis A virus within six months without any serious health problems.

Hepatitis A viruses

Fecal matter from an infected person has a high concentration of the virus. The virus can survive in fecal matter on a person's hand or other surfaces for three to four hours at normal room temperatures. Eating utensils are a frequent source of infection, as are contaminated shellfish and I.V. drug use. Intimate contact of any kind with an infected person can also transmit the virus.

A very small percentage of people, frequently those having pre-existing liver disorders, risk serious complications from hepatitis A. Federal mortality statistics for 1992 listed hepatitis A as the primary

cause of death for 82 people in the United States.

Hepatitis E

Hepatitis E, whose symptoms and methods of transmission resemble hepatitis A, is caused by a virus commonly found in the Indian Ocean region, Africa, and in underdeveloped countries. Testing for hepatitis E is being developed but is not yet available commercially. The symptoms of hepatitis E are like those of hepatitis A, although the period of illness may be as long as several months. Hepatitis E is rarely, if ever, responsible for causes of chronic hepatitis.

Adequate sanitation and good personal hygiene reduces the risk of hepatitis A and E. Water should be boiled prior to its use if any question of safety exists. Similarly, in areas where sanitation is questionable, food should be cooked well and fruits peeled. Those planning to travel to areas where hepatitis A or E is widespread are advised to take immune globulin before leaving.

Hepatitus

Hepatitis B Virus

Hepatitis B virus (HBV), formerly called serum hepatitis, is much more prevalent than HIV ( the virus that causes AIDS). An estimated 1.2 million Americans are currently chronic carriers of HBV, with more than 300 million carriers in the world. Hepatitis B may develop into a chronic disease (lasting more than 6 months) in up to 10% of the newly infected people each year. If left untreated, the risk of developing cirrhosis (scarring of the liver) and liver cancer is greatly increased.

This disease is much more infectious than HIV. It is transmitted through infected blood and other body fluids (seminal fluid, vaginal secretions, breast milk, tears, saliva and open sores). In the U.S., hepatitis B is spread predominantly through sexual contact. Other risk groups include health care workers, prison inmates and personnel, IV drug users, and recipients of blood transfusions prior to 1975. In families, it appears that the virus can be casually spread from adults to children.

The onset of hepatitis B is gradual. As with other forms of hepatitis, most people who get hepatitis B have no recognizable signs or symptoms. But some people do experience flu- like symptoms, such as loss of appetite, nausea and vomiting, fever, weakness, tiredness, as well as mild abdominal pain. Less common symptoms are dark urine

Hepatitis B virus

and yellowing of the skin and eyes (jaundice). The only way these diseases can be positively identified is through blood tests. However, over 90 to 95 percent of adult patients recover within six months, while 5 to 10 percent develop chronic hepatitis or become carriers. Severe manifestations of chronic HBV infection include development of scarring of the liver (cirrhosis), and liver cancer which usually occurs decades later.

An HBV carrier is someone who has had hepatitis B in their blood for more than six months. A carrier usually has no signs or symptoms of HBV but remains infected with the virus for years or for a lifetime and is capable of passing the disease on to others. Two types of vaccine are available to prevent hepatitis B.

Hepatitis D Virus

Infection with hepatitis D (HDV)

occurs only in patients already infected with hepatitis B. Hepatitis D is spread mainly by contaminated needles and blood. I.V. drug users have a high incidence. The simultaneous infection with HBV and HDV produces more severe illness, and higher rates of long term liver failure, than HBV alone. The disease is usually self-limited, and due to its co-dependence on HBV, hepatitis D is effectively prevented via the HBV vaccine.

Hepatitis G

A newly identified strain of hepatitis, hepatitis G is currently under study. The first major study of virus has reported that those infected by means other than blood transfusions did not develop chronic liver disease, although for most the virus remained in their blood for several years. It is not clear at this time how widespread hepatitis G is, what the means of transmission are, or what its precise effects are on infected patients.

Other Hepatitis Viruses

There is accumulating evidence that other hepatitis viruses exist - in part due to the fact that the known viruses (A through G) do not explain all cases of hepatitis that are believed to be caused by viruses. Detailed studies are currently underway. However, the clinical significance and public health impact of other hepatitis viruses remains unknown.