September is Sickle Cell Awareness Month

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 fi gure out the reason. When the doctors fi nally did, Reid was even more mystifi ed.

“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 responsi-ble 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” hemo-globin. Making matters worse was that her husband’s hemoglobin was equally defec-tive — and together, they passed the genes to their fi rst-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 fl ow 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 ex-treme 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 hus-

band 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 hemoglo-bin is defective, and therefore, they are not medically impaired.

Sickle cell is not a new disease. It fi rst came to light in the United States in 1910, when Dr. James Her-

rick of Chicago described a patient from the West Indies who had anemia with un-usual 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 hemoglo-bin.

Sickle cell disease occurs more frequently in people whose families come from Africa, Central or South America, the Caribbean, countries that border the Medi-terranean, 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 direc-tor 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 fi ne, 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 competi-tion, 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 fi lters out abnormal red blood cells and helps the body’s immune system fi ght 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 fi gure out the odds of a par-

Sickle cell disease:Making sense of genetic disorder

More than 70,000 people in this country have sickle cell disease. It occurs in one out of every 500 African American births.

— National Heart, Lung, and Blood Institute

Myiesha Demery has come a long way. Born in the Virgin Islands, she moved to Boston when she was 5 years old in part because of her medical condi-tion.

She was diagnosed with sickle cell disease — both her parents carried the trait — but doctors in St. Thomas could offer little in the way of treatments. She was told to simply eat foods that were thought to boost the oxygen in her blood.

Quite naturally, her condition wors-ened and the painful fl are-ups occurred as often as three times a week.

“It can be sudden,” she said. “It can start in one spot and quickly spread to ev-ery joint in my body within 30 seconds.”

When asked to give the pain a rat-ing between one and 10, she could only laugh. “Our pain far exceeds that,” she

explained. Not everyone with sickle

cell disease experiences such acute pain. The symptoms range from very mild to requir-ing frequent hospitalizations.

Most common are the signs of anemia — fatigue, diz-ziness, headache, shortness of breath and cold hands and feet. Sickle cell disease has multiple complications. In the hand-foot syndrome, the sickle red blood cells block the small blood ves-sels of the hands and feet, caus-ing pain, swelling and fever. Infections, such as pneumonia or the fl u, are common. People with sickle cell disease are at higher risk for stroke, damage

to the retina of the eye, development of gallstones, leg ulcers and delayed growth in children.

The damage is signifi cant. Accord-ing to a report by the Centers of Disease Control and Prevention, roughly 75,000 hospitalizations between 1989 and 1993 were due to sickle cell disease at a cost of $475 million.

A more recent report published in the April 2009 issue of the American Journal of Hematology estimates that the yearly cost of medical care exceeds $1.1 billion. The authors cautioned that this estimate does not include lost productivity and premature mortality.

Fortunately, it is often possible to avoid some of the problems. Regular checkups are important, and yearly fl u shots and other immunizations can reduce the risk of infections. Hydration — drink-ing eight to 10 glasses of water every

Early awareness key to managing symptoms

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

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BE Healthy™

Sponsored by

Boston Public Health Commission

Myiesha Demery, 32, came to Boston from the U.S. Virgin Islands at the age of 5 for treatment for sickle cell disease.

Reid, continued to page 4

Myiesha, continued to page 4

PHOTO: LOLITA PARKER JR.

Sickle cell disease: The fight for survival starts early

C

hildren with sickle cell disease — also referred to as sickle cell anemia — can lead healthy and productive lives. With medications for pain and infection, timely immunizations and adherence

to healthy habits, children can live a life fi lled with school, family and other activities they enjoy. This is not to mini-mize the severity of the disease. Sickle cell anemia — an inherited illness caused by an abnormality in the red blood cells — can be a painful and deadly disorder. It is marked by serious infections, persistent anemia, painful episodes and damage to several organs of the body.

How can I tell if my child has sickle

cell disease? Fortunately, all 50 states

as well as Washington, D.C., Puerto Rico and the U.S. Virgin Islands offer newborn screen-ing for sickle cell disease. Most states, including Massachusetts, mandate the screening, which is usually performed within 48 hours of birth. Since most screening programs have been in effect for several years, cases are now caught early rather than later. The advantage to early screening is early treatment.

Helping children live well with

sickle cell diseaseAfter learning their child has sickle cell disease,

parents may wonder what life will be like for him or her. Will it ever be normal? What should they do to help prepare their child for the future?

The quality of life will also depend on whether the disease is mild or severe and the effectiveness of treat-ments. Infections are a major problem for infants and young children, and can be fatal. Sickle cell anemia can harm the spleen, an organ that helps fi ght infections. In addition, pneumonia is often the cause of death in young children with sickle cell anemia.

The disease is also characterized by episodes of

pain called “crises.” A crisis occurs when red blood cells clump in the bloodstream and block the fl ow of blood, causing pain and ultimately tissue damage. The pain can be pervasive — invading the stomach, bones, lungs and joints — and can last a few hours, days, weeks or even months.

Major advances have been made in the treatment of sickle cell anemia — from the reduction of infections to the approval by the Food and Drug Administration of hydroxy-urea, an anti-cancer medicine that has proven effective in reducing crises. Although studied in adults, hydroxyurea is often offered to children as well. In some cases, bone marrow transplants have cured the disease.

There are some things you can do as a par-ent to keep your child healthy and minimize complications.

Prevent infectionsAntibiotics, adminis-

tered twice a day from the age of two months to fi ve years, have proven suc-cessful in

lowering the incidence of

infections in infants and children with sickle cell.

Hand washing is one of the most effective ways to prevent the spread of infections. Wash your hands before eating or preparing food, after using the toilet or changing diapers, and after contact with someone who has an infection. Use soap and clean water or gel hand cleansers.

Food safety can prevent salmonella, bacteria especially harmful to children with sickle cell. Salmonella can be found on fruits and vegetables, in dairy and meat products, poultry and even on some pets. To prevent contamination, wash hands, cutting boards and utensils after touching un-

cooked foods; wash vegetables; cook meat until it is well done; and do not eat raw or undercooked eggs.

Keep up with immunizationsIn addition to the regular

childhood vaccines, a few extra are recommended for children with sickle cell disease. Yearly fl u vac-cines as well as pneumococcal and meningococcal vaccines for pneu-monia and meningitis, respectively, are encouraged. Meningitis is an infl ammation of the membranes that cover the brain and spinal cord, and can result in brain dam-age. Prior to the development of these immunizations, pneumonia was one of the leading causes of death in children with sickle cell. Some experts recommend protec-

tion against hepatitis A as well.Have regular checkupsThe Centers for Disease Control and Prevention

recommends a schedule of regular visits to the doctor — every two to three months for infants from birth to age 1; at least four times a year for children from age 1 to 2; and at least yearly for children 2 and older. Children with

sickle cell are followed by pediatricians as well as hematologists, who specialize in disorders of the blood.

Encourage healthy habitsChildren with sickle cell should

drink lots of fl uids — preferably water — each day to keep hydrated and reduce the clumping of red blood cells. Although exercise is encouraged, rest is important as well. Overdoing it can lead to an at-tack. Extremes of temperature can cause a problem — kids need to be kept warm in the winter and cool in the summer.

Be aware of symptoms The symptoms of sickle cell vary by

severity of the disease and do not appear until 4 months of age or older. As noted in http://www.kidshealth.org and http://www.

familydoctor.org, some of the symptoms to look for are: • Anemia• Swelling of the feet or hands • Skin or nail beds suddenly turn pale • Eyes or skin turning yellow • Infection • Pain in joints, stomach, chest or muscles• Fever • Episodes of pain Know when to call the doctorThere are some symptoms that require immediate

professional medical care. • Fever above 101 degrees• Diffi culty breathing • Chest pain • Abdominal (belly) swelling • Severe headache • Seizure • Signs of a stroke — sudden weakness, slurring of

speech, numbness and tingling, sudden change in visionBecause of advances in the treatment of sickle cell

disease and better understanding of the disease, life ex-pectancy has signifi cantly increased in the past 20 years.

Resources for families and children

Greater Boston Sickle Cell Disease AssociationPurpose: Offers comprehensive support services to patients

with sickle cell disease and their families, and educates the

general public on matters pertaining to sickle cell disease and

sickle cell trait.

Location: 1542 Tremont Street, Roxbury

Contact: Rev. Ronald Stephenson, 617-427-4100

Web address: http://www.cscsginc.org

Sickle SistersPurpose: Offers support and information to teenage girls

who have sickle cell disease

Location: Boston Floating Hospital for Children (Pediatric

Hematology and Oncology), 750 Washington Street, Boston

Contact: Jeanne Hampton, 617-636-5535

SickleCellKids.orgPurpose: A fun, educational Web site for kids with sickle cell

disease, their families and friends

Web address: http://www.sicklecellkids.org

Since 1990, the Massachusetts Department of Public Health has mandated newborn screening for sickle cell disease.

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Sickle cell disease

1. What causes the pain in sickle cell disease?

The hallmark of sickle cell disease is the sickle cell crisis, which is an episode of pain due to decreased blood fl ow and oxygen to a certain area of the body. Pain most commonly occurs in the lower back, leg, hip, abdomen or chest, often in two or more locations. Episodes usually recur in the same areas.

2. Can a woman with sickle cell disease have a healthy pregnancy?

Yes. However, many women with sickle cell disease experience more frequent pain crises and other sickle cell-related complications during pregnancy. The increased frequency of crises, particularly during the latter half of pregnancy, likely results from heightened metabolic requirements in pregnancy, decreased blood fl ow and the increased tendency for blood to clot during pregnancy.

3. Will taking iron supplements help a person who has sickle cell disease?

Not necessarily. Patients with sickle cell disease who receive mul-tiple blood transfusions are cautioned against taking iron even though they have anemia because they are at risk for storing too much iron and developing iron overload. Patients should take daily folic acid and vitamin B-12 and B-6 supplements. Vitamin B-6 may have specifi c anti-sickling properties.

4. Is sickle cell disease curable? Sickle cell disease is not curable at the moment. Bone marrow

transplantation is a potential cure but remains an experimental treat-ment at this point.

5. Can people with sickle cell disease play competitive sports?It depends. One generally accepted precaution in the prevention

of pain crises is to avoid excessive demands on the body that would increase oxygen needs, such as physical overexertion and stress. Pa-tients should consult their doctor about any specifi c exercise or sports program.

6. Are there precautions that people with sickle cell disease should follow?

Although it is not possible to prevent sickle cell crises or long-term complications of sickle cell disease, advances in treatment coupled with taking certain precautions have allowed patients to have a longer, better-quality life.

Examples are: • Have regular physical examinations every two to 12 months

depending on age.• Get yearly eye examinations and fl u shots. • Get suffi cient rest and fl uids, and avoid extremes in temperature

to reduce oxygen loss and the risk for dehydration. • Avoid conditions or activities that demand increased need for ox-

ygen, such as competitive sports, physical overexertion or even stress. Exercise is recommended, but know your limits. Low impact exer-cises, such as leg lifts, that increase or maintain strength are helpful. It is wise to consult your doctor before starting any exercise program.

• Avoid high altitudes if possible. When fl ying make sure that the airline can provide oxygen.

• Do not smoke and avoid exposure to second-hand smoke. Both active and passive smoking may promote acute chest syndrome in patients with sickle cell disease.

7. If a person with sickle cell disease has a baby with a person with normal red blood cells, is it possible to pass the disease to their offspring?

No. Each child born to those parents will have sickle cell trait and will be a “carrier” of sickle cell disease. People inherit a pair of genes — one from each parent — that regulate hemoglobin, a protein that is responsible for transporting oxygen in red blood cells. If two sickle cell genes are inherited, a person will have sickle cell disease. If one normal hemoglobin gene and one sickle cell gene are inherited, a person will have sickle cell trait. People with the trait are healthy and do not develop sickle cell disease, but they are can pass their defective gene on to their children.

8. Why are people with sickle cell disease prone to infections? The sickled red blood cells tend to stick together and slow the

blood fl ow to certain areas. The decreased blood fl ow decreases the oxygen content, which provides a more supportive environment in which bacterial and viruses can thrive.

9. Can sickle cell trait become sickle cell disease? No. People who inherit just a single gene are referred to as having

the sickle cell trait. The trait cannot transform into sickle cell disease.

The information presented in BE HEALTHY is for educational purposes only, and is not intended to take the place of consultation with your private physician. We recommend that you take advantage of screenings appropriate to your age, sex and risk factors, and make timely visits to your primary care physician.

Questions & Answers

• Anemia

• Hand-foot syndrome — swelling in hand

and feet due to blocked blood vessels

• Crisis — pain episode

• Infections — pneumonia, infl uenza,

meningitis

• Acute chest syndrome — severe infection

of the lungs

• Splenic crisis — enlargement of spleen due

to clogged blood vessels

• Eye problems

• Pulmonary arterial hypertension — high

blood pressure in the artery that carries

blood from the heart to the lungs

• Delayed growth and puberty in children

and teens

• Stroke

• Gallstones

• Ulcers on the legs

• Priapism — painful erections in males

• Organ damage or failure — due to

decreased oxygen

Symptoms and complications

Lisa Michelle Owens, M.D.Medical DirectorBrigham Primary Physicians atFaulkner Hospital

A closer lookNormal red blood cells are round and fl exible and fl ow easily through the blood vessels,

carrying much-needed oxygen, a major source of the body’s energy. In sickle cell disease,

the red blood cells are C-shaped and sticky. They can form clumps and block the fl ow of

blood. When a body part is robbed of oxygen, it can result in pain and organ damage.

Source: National Heart, Lung and Blood Institute.

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ticular 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, manda-tory blood testing for newborns was in effect. The Reids were notifi ed of Amiel’s blood status within 24 hours of his birth. He did pretty well his fi rst few years. It wasn’t until preschool that his fi rst 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 condi-tion. Like his older sister, Amiel was hospitalized for about 30 days.

He re-members 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 Icelan-dic 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 fi ght 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 re-search 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 doc-tor,” he said.

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

Reid continued from page 1

Surviving sickle cell diseaseIt is not always possible to prevent a sickle cell crisis or a long-term

complication. However, there are measures you can take to manage

the disease and minimize its impact.

Drink plenty of water to prevent the blood from clumping

Don’t overexert yourself

Get vaccinations to prevent infections

Don’t smoke

Have your eyes checked every yearTake your meds

Get regular checkups

Control stress and fi nd a support group

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

Comments on Be Healthy? Contact health editor Karen Miller at kmiller@bannerpub.com.

day — and not overdoing physical activity can go far in preventing crises, or painful episodes.

Notable advances have been made. Early diagnosis is essential for prompt treatment, and there is good news on that front. All 50 states, in compliance with a recommendation from the U.S. Preventive Services Task Force in 1996, now require screening for sickle cell in newborns. In Massachusetts, the Newborn Blood Screening Program run by the University of Massachusetts Medical School man-dates screening for the disease within 48 hours of birth.

Timing is important. For the fi rst few months of life, fetal hemoglobin is the main oxygen transport system for all infants. This inborn protection dissipates at about four to six months and instead of making normal hemoglobin, people with sickle cell disease make abnormal sickle hemoglobin. It’s been found, however, that the initiation of daily penicillin from the age of 2 months to 5 years can reduce the incidence of infections, particularly pneumonia, which had been common and deadly in children with sickle cell disease.

Most signifi cant is the introduction in 1995 of hydroxyurea, an anti-cancer drug that has proven effective in preventing or reducing complications of sickle cell.

In rare cases, sickle cell disease can be cured through bone marrow transplan-tation.

The improved approach appears to be working. In a recent study published in the Journal of Pediatrics, the researchers found that the mortality rate for black chil-

dren diagnosed decreased by 68 percent from 1983 to 2002. The researchers as-sume that this trend will continue.

Lifestyle changes are also imperative. For her part, Demery has learned to live with her disease. “I try to drink a lot of water,” she said. “And exercise helps.”

She walks regularly at Jamaica Pond. She is learning to control her stress — an-other trigger. Though she has chronic pain in her lower back and hips and takes prescription medications, she said she tries not to rely too heavily on the pain meds. “Sometimes it can make matters worse,” she said.

She also has learned to pace herself in her day-to-day life to keep the painful fl are-ups at a minimum.

Although her condition has im-proved, Demery admits she still has fl are-ups every two to three months.

In spite of everything, she looks at the positive. “I’m still a very productive person,” she said. “Although I am not healthy a lot, I work with what I have.”

She has completed a bachelor’s de-gree in biology and is planning to pursue a master’s degree in women’s health at Suf-folk University in the fall. She is also an event planner and amateur photographer.

But she has become a bit of an advo-cate as well. In September, in commemo-ration of Sickle Cell Awareness Month, she is starting a support group for women with sickle cell disease. Demery feels there is a need to educate people about the disease.

“Without a strong support group, people can fall through the cracks,” she said.

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.

What are the odds?If two people with sickle cell disease have children, it

stands to reason that all their children will also have the disease. Otherwise, it is not as straightforward.

1. If two people with sickle cell trait have children …

… with each pregnancy, there is a 25 percent chance that the child will

inherit two normal genes, a 25 percent chance the child will have sickle

cell disease and a 50 percent chance the child will have the trait.

2. If a person with the trait has children with a person who has sickle cell disease …

… with each pregnancy, there is a 50 percent chance the child will have

the trait and a 50 percent chance the child will have sickle cell disease.

Key: — normal (inherited two normal genes for hemoglobin)

— sickle cell disease (inherited two sickle cell genes)

— trait (inherited one normal gene and one sickle cell gene)

Myiesha continued from page 1

50% 50%

25% 25%50%

PHOTO: COURTESY OF DANA FARBER CANCER INSTITUTE

PHOTO: COURTESY OF CHILDREN’S HOSPITAL BOSTON

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