Hemochromatosis ?

S. Foster’s health began to collapse in 1990, during her second pregnancy.

“It was like somebody hit me over the head with a sledge hammer.” She had no energy. Her joints ached. She walked like a drunk woman. Some days she was so tired she couldn’t move from the couch. She would sit in her husband’s lap and cry and tell him, “Just put me in a home when I can’t go any more.”

Foster visited a dozen doctors and investigated every explanation she could think of: Mercury poisoning? Copper poisoning? Multiple sclerosis? No one could tell her what was wrong with her. It wasn’t until 1995 that she got an answer: hemochromatosis.

Hemochromatosis is an inherited blood disorder that causes the body to store excess iron. A normal person’s body absorbs the iron that it needs and lets the rest pass through. But people with hemachromatosis have no shut-off mechanism. Their bodies absorb and absorb, storing the extra iron in the joints, liver, heart and pancreas. This can cause arthritis, cirrhosis of the liver, diabetes, heart problems – and eventually, death.

Hemochromatosis is the most common genetic disorder in the US. More than a million Americans have hemochromatosis, and another 10% carry one gene for the disorder.

“It’s much more common than people realize,” said Dr. R.Brodkin, a Winston-Salem hematologist.

The good news is that treatment is simple. Patients can control iron levels simply by giving blood. How often patients need to give depends on how much iron they have absorbed.

Foster gave 36 pints of blood in 39 weeks. “After giving the blood, almost immediately, I felt a little bit lighter,” she said.

But losing that much blood took its toll. At times, she felt more exhausted than she had before. But a few months after she finished the intense bloodletting, her health returned.

“I feel much better. I still have joint pain. That will be lifelong.” But, she said, “I feel like a suit of armor has been lifted off my body.”

She now gives a pint of blood three or four times a year.

Foster, 38, is a nurse at High Point Regional Hospital. But in all of her years of nursing she never heard the word hemochromatosis until her mother, who suffers from liver disease, visited a new doctor who tested her blood and told her that she had the disorder. After Foster read about it, she was sure that she had it too. Blood tests and a liver biopsy confirmed her suspicions. More tests revealed that an aunt, an uncle and both of her sisters have hemochromatosis as well. She believes that her father, who died a number of years ago of a massive heart attack, also had it.

Throughout her experience, Foster has been frustrated by many doctors’ lack of knowledge or interest in hemochromatosis. “The ignorance is just rampant in the medical community.”

Dr.G.Block agrees. He is a graduate of Bowman Gray School of Medicine and the medical director of the Hemochromatosis Center at the University of Pittsburgh Medical Center Health System.

Studies have shown that it takes patients with full-blown hemochromatosis an average of 3 ½ to 5 years and seven to 11 doctors to get a diagnosis, he said. And until about a year ago, professors devoted maybe five minutes of medical school time to hemochromatosis and told students that the disorder was extremely rare.

A new genetic test is raising the disorder’s profile.

Before the development of the test, doctors couldn’t identify hemochromatosis until it had already caused a lot of damage. And determining whether hemochromatosis or something else was causing the problem required a liver biopsy, a relatively painful and involved procedure. Now the genetic test provides a quicker, easier answer.

The test isn’t perfect. It identifies only 85% of people with hemochromatosis, Block said. The other 15% of people with the disorder got it through some other gene problem doctors can’t identify yet.

One reason that doctors didn’t catch the disorder earlier, Brodkin and Block said, is because most insurance companies don’t cover the routine iron-level screenings that would indicate a problem.

The tests aren’t that expensive, usually between $60 to $120. And studies show that the average undiagnosed hemochromatosis patient racks up $20,000 a year in medical bills, according to David Snyder. Snyder is the executive director and vice president of the American Hemochromatosis Society.

The society is educational and advocacy group that is pushing blood banks to accept hemochromatosis patients’ blood. Right now patients must go to a doctor and pay to have blood drawn.

“There’s nothing wrong with the blood,” Brodkin said. “It would be very safe for this blood to be used for transfusions, but the Red Cross won’t accept it.” It is also pushing for genetic testing for all newborns.

He said that currently, only about 3% of all people with hemochromatosis know that they have the disorder.

People who are carriers need to know that, too, he said. Carriers can have somewhat elevated iron levels, Brodkin said. And being a carrier can worsen certain existing problems, such as liver disease or heart trouble. Also, if two carriers marry, they have a 25% chance of passing the disease on to their children.

The need-to-know is what has Foster out talking to anyone who asks about hemochromatosis.

“One of the reasons I do this is because I know there’s another Shiryl out there, who thinks she’s lost her mind, who thinks she’s just a whiner.”

ANEMIA

Anemia, one of the more common disorders, occurs when the number of healthy red blood cells decreases in the body. The disc-shaped red blood cells contain hemoglobin, a unique molecule that carries oxygen to the body’s tissues.

Anemia occurs for different reasons. These include: 1. increased destruction (break down) of red blood cells (RBCs); 2. increased blood loss from the body; 3. inadequate production of red blood cells by the bone marrow.

In some cases anemia results from an inherited disorder, whereas in other cases the condition is caused by something in a person’s environment, such as a nutritional problem, infection, or exposure to a drug or toxin.

Signs and symptoms of the disease:

The most common sign of iron deficiency and other types of nutritional anemia is mild paleness of the skin, along with decreased pinkness of the lips, the lining of the eyelids, and the nail beds. A friend or relative who sees your child only occasionally may be more likely to notice this than you because the changes usually happen so gradually.

Other common signs of anemia may include: irritability, fatigue, dizziness, lightheadedness, and a rapid heartbeat.

Depending on the condition causing the anemia, other signs and symptoms may occur, such as jaundice (yellow-tinged skin), dark tea-colored urine, easy bruising or bleeding, and enlargement of the spleen or liver.

In infants and preschool children, iron-deficiency anemia can result in development delays and behavioral disturbances, such as decreased motor activity and problems with social interaction and attention to tasks. Recent research studies indicate that behavioral problems may persist into and beyond school age if the iron deficiency is not properly treated.

Diagnosing anemia: In many cases doctors don’t discover anemia until they run blood tests as part of a routine physical examination. A complete blood (CBC) may indicate that there are fewer red blood cells than normal.

Caring for a child with anemia: the type, cause and severity of the child’s anemia will determine what kind of care she needs. In general, though if your child has significant anemia, she may tire more easily than other children and therefore need to limit her activity. Make sure that her teachers and other caregivers are aware of her condition. If iron deficiency is the cause, follow her doctor’s directions about dietary changes and iron supplementation.

If the spleen is enlarged, your child may be prohibited from playing contact sports because of the risk of rupture and hemorrhage.

Treatment for anemia depends on the cause of the condition. It’s important not to assume that any symptoms your child may be having are due to iron deficiency. Be sure to have her checked by a doctor, and don’t attempt to treat her yourself before doing so.

If a certain medication appears to be the cause, your child’s doctor may discontinue it or replace it with something else – unless the benefit of the drug outweighs this side effect. If an infection is the cause, the anemia will usually get better when the infection passes on its own or it is cured by treatment.

Treatment for more severe or chronic forms of anemia may include (depending on the cause): 1. transfusions of normal red blood cells taken from a donor; 2. removal of the spleen or treatment with medications to prevent blood cells from being removed from the circulation or destroyed too rapidly; 3. medications to fight infection or stimulate the bone marrow to make more blood cells.

Whether anemia can be prevented depends on the cause of the condition. Presently there is no way to prevent anemia that is caused by genetic defects affecting the production of red blood cell or hemoglobin.

However there are steps you can take to help prevent iron deficiency – the most common form of anemia. Before following any of these suggestions, be sure to talk them over with your child’s doctor.