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September 3, 2009 – Vol. 4 • No. 1
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Making sense of genetic disorder

As far as Lynnie Reid knew, her newborn girl was as healthy as could be. All of that changed about eight months later. Instead of bounce, there was lethargy, and no one could figure out the reason. When the doctors finally did, Reid was even more mystified.

“Hemoglobin” is not exactly the word any young mother wants to talk about in connection with her child’s health. But the ill-sounding word is actually a good thing. In addition to giving blood its color, the iron-rich protein is responsible for transporting oxygen throughout the body.

Like a lot of people, Reid had never heard of hemoglobin. But there she was — all of 20 years old at the time — hearing that she had “rare and defective” hemoglobin. Making matters worse was that her husband’s hemoglobin was equally defective — and together, they passed the genes to their first-born child.
The diagnosis was sickle cell disease, a blood disorder that transforms normally round blood cells into twisted, sickle-shaped cells that clump together and block the flow of blood to different parts of the body. The blockage caused by the abnormal red blood cells often leads to periods of excessive pain called “crises” and organ damage. In extreme cases, sickle cell disease can be fatal.

After sitting and waiting for nearly 30 days in the hospital with her ailing daughter, Reid asked her doctors about the prognosis. It wasn’t good. The doctors said the baby wouldn’t live past 18 years old. Reid didn’t want to hear any of that sort of talk.

“That’s not an answer,” she told the doctors.

It wasn’t. More than 30 years later, her baby girl is still alive and Reid and her husband went on to have four more children. A son, Amiel, 15, has sickle cell disease, while the three other children acquired the sickle cell trait. In those with the trait, less than half of their hemoglobin is defective, and therefore, they are not medically impaired.

Sickle cell is not a new disease. It first came to light in the United States in 1910, when Dr. James Herrick of Chicago described a patient from the West Indies who had anemia with unusual sickle-shaped red blood cells. About 40 years later, Linus Pauling correlated the illness to a defect in a protein. That led to the discovery of a mutation in hemoglobin that swapped one amino acid (protein) for another and resulted in the sickle hemoglobin.

Sickle cell disease occurs more frequently in people whose families come from Africa, Central or South America, the Caribbean, countries that border the Mediterranean, such as Greece and Italy, and India and Saudi Arabia. According to the National Heart, Lung, and Blood Institute, part of the National Institutes of Health, more than 70,000 people in this country have sickle cell disease. It occurs in one out of every 500 African American births.

Dr. Maureen M. Okam, the director of hemoglobinopathy at Brigham and Women’s Hospital, explained that the disease can be deceiving. The symptoms can be mild or severe.

“Although you feel fine, you can still have complications,” she warned. “There still can be long-term effects. Regardless of the daily manifestations of the disease, it is still possible to suffer from strokes, kidney failure or other complications.”

The disease occurs when an infant inherits a sickle cell gene from each of his or her parents. One of the most severe forms of the disease is sickle cell anemia, in which both parents donate the abnormal sickle “S” gene.

Sickle cell trait, on the other hand, is caused by the inheritance of only one sickle cell gene from a parent. It is estimated that one in 12 African Americans in this country have the trait.

For the most part, people with the trait are symptom-free and are not required to take medication or follow any particular precautions. But under extreme conditions, such as high elevation or athletic competition, those with the trait can experience complications as well.

Pittsburgh Steelers safety Ryan Clark had his spleen and gallbladder removed because of complications from sickle cell trait.

The spleen is particularly vulnerable. It filters out abnormal red blood cells and helps the body’s immune system fight infection. In those with sickle cell disease, red blood cells become trapped in the spleen, reducing circulation to the rest of the body.

Trying to figure out the odds of a particular child getting the defective gene is like tossing a coin. If two people with the trait have children, there is a 25 percent chance that each pregnancy can result in sickle cell anemia and a 50 percent chance that each pregnancy can result in sickle cell trait. If a person with the trait has children with a person who has sickle cell disease, there is a 50 percent chance that each pregnancy can result in the disease and a 50 percent chance that each pregnancy can result in the trait.

For Reid, the worst part about the disease was that she didn’t know much about it. That has changed over the years.

Fortunately, when Reid’s son Amiel was born in 1993, mandatory blood testing for newborns was in effect. The Reids were notified of Amiel’s blood status within 24 hours of his birth. He did pretty well his first few years. It wasn’t until preschool that his first crisis occurred.

His temperature soared. What seemed to be a “little cough” escalated into acute chest syndrome, a common but serious complication of sickle cell disease. A pulmonary embolism — an obstruction of an artery in his lungs — worsened his condition. Like his older sister, Amiel was hospitalized for about 30 days.

He remembers the crises well. “The pain was so bad,” he recalled. “It’s sharp, excruciating. It was hard to breathe. It can make you go crazy.”

According to Amiel, he was not really aware of his illness until about second grade. “I noticed that I got sick more than other children,” he explained. “My mother told me about my illness, but I didn’t fully understand.”

Fortunately, his crises have subsided. The last one was about six years ago. Amiel credits his good health in part to his medications — a regimen of hydroxyurea, an anti-cancer drug that has been found to work well in sickle cell patients.

“Hydroxyurea increases the fetal hemoglobin level in the blood and reduces its stickiness,” Okam explained. “It is well tolerated by many people. Still, the impact varies by patient. Scientists are trying to determine why there are variable effects of hydroxyurea in different patients.”

Hydroxyurea works by mimicking fetal hemoglobin, which protects the newborn from “sickling” up until about 6 months of age. The medicine is not toxic like similar anti-cancer drugs and does not cause nausea and vomiting.

Medications are one thing; lifestyle choices are another. Amiel has adjusted accordingly.

He had to make sure his coach was aware of his illness and limitations. “I don’t overdo it in sports,” he explained. “Sometimes I lose my breath quickly.”

But the key is drinking plenty of water. “I always have a drink with me,” he said. “If I am outside and run out of water, I buy some more.”

Sickle cell disease has not slowed Amiel one bit. To say the least, he is not your typical teenager.

He is an honor student at Belmont High School. His favorite subject is science. He plays football, basketball, soccer and tennis. He excels at the piano and the cello. Last year he spent four days and three nights in Iceland through the generosity of the Icelandic Special Children’s Fund.

He is quick to point out his work as an advocate with Children’s Hospital Boston. A recent trip to Washington, D.C. saw Amiel meeting with congressmen to fight for children’s health care coverage and health issues.

A couple of years ago, Amiel and his mother were invited to participate in a special airing of PBS’ “Nova ScienceNow” about stem cell research. They thought it would be a simple Q&A with host Neil DeGrasse Tyson. But it turned into something much more.

Because of his disease and his interest in science, Amiel was invited to work in the research lab with Dr. George Daley, a physician and researcher at Children’s Hospital. Daley’s interest is the use of stem cells to treat genetic blood disorders among other things.

Amiel lights up when he discusses the potential to transform sickle cells into normal red blood cells.

“I might want to be a scientist or a doctor,” he said.

But there is only one problem. “I’m scared of hospitals,” he admitted.

Amiel Reid played the cello at an event to honor Massachusetts first lady Diane Patrick. The event was sponsored by the Boston & Vicinity Club and the League of Women for Community Service.

Maureen M. Okam, M.D.
Director of Hemoglobinopathy
Brigham and Women’s Hospital

Lynnie Reid (left) and her sons, Amiel (second from left) and Isaiah (front) and husband Andrew (right), met with Massachusetts Sen. John Kerry in Washington, D.C., during Family Advocacy Day, sponsored by Children’s Hospital Boston.

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