Sickle cell disease

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VOL. 4 • NO. 1

Boston Public Health Commission

© SEPTEMBER 2009 PH OTO: LOLITA PAR KER JR .

Sickle cell disease: Making sense of genetic disorder

days in the hospital with her ailing daughter, As far as Lynnie Reid knew, her newborn girl was as healthy as could be. All Reid asked her doctors about the prognosis.

It wasn’t good. The doctors said the baby of that changed about eight months later. wouldn’t live past 18 years old. Reid didn’t Instead of bounce, there was lethargy, and want to hear any of that sort of talk. no one could figure out the reason. When “That’s not an answer,” she told the the doctors finally did, Reid was even more doctors. mystified.

It wasn’t. More than 30 years later, her “Hemoglobin” is not exactly the word baby girl is still alive and Reid and her husany young mother wants to talk about band went on to have in connection four more children. with her child’s More than 70,000 A son, Amiel, 15, has health. But the people in this country sickle cell disease, ill-sounding word while the three other is actually a good have sickle cell children acquired the thing. In addition sickle cell trait. In those to giving blood its disease. It occurs in with the trait, less than color, the iron-rich one out of every 500 half of their hemogloprotein is responsibin is defective, and ble for transporting African American therefore, they are not oxygen throughout medically impaired. the body. births.

Sickle cell is not Like a lot — National Heart, Lung, a new disease. It first of people, Reid and Blood Institute came to light in the had never heard United States in 1910, of hemoglobin. when Dr. James HerBut there she was rick of Chicago described a patient from — all of 20 years old at the time — hearing the West Indies who had anemia with unthat she had “rare and defective” hemousual sickle-shaped red blood cells. About globin. Making matters worse was that her 40 years later, Linus Pauling correlated the husband’s hemoglobin was equally defecillness to a defect in a protein. That led to tive — and together, they passed the genes the discovery of a mutation in hemoglobin to their first-born child. that swapped one amino acid (protein) for The diagnosis was sickle cell disease, another and resulted in the sickle hemogloa blood disorder that transforms normally round blood cells into twisted, sickle-shaped bin.

Sickle cell disease occurs more cells that clump together and block the flow frequently in people whose families come of blood to different parts of the body. The from Africa, Central or South America, the blockage caused by the abnormal red blood cells often leads to periods of excessive pain Caribbean, countries that border the Mediterranean, such as Greece and Italy, and called “crises” and organ damage. In exIndia and Saudi Arabia. According to the treme cases, sickle cell disease can be fatal.

National Heart, Lung, and Blood Institute, After sitting and waiting for nearly 30

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.

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

Early awareness key to managing symptoms 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 condition.

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 worsened and the painful flare-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 every joint in my body within 30 seconds.”

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

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

explained.

Not everyone with sickle cell disease experiences such acute pain. The symptoms range from very mild to requiring frequent hospitalizations.

Most common are the signs of anemia — fatigue, dizziness, 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 vessels of the hands and feet, causing pain, swelling and fever.

Infections, such as pneumonia or the flu, are common. People with sickle cell disease are at higher risk for stroke, damage

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 parReid, continued to page 4

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

The damage is significant. According 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 flu shots and other immunizations can reduce the risk of infections. Hydration — drinking eight to 10 glasses of water every Myiesha, continued to page 4

September is Sickle Cell Awareness Month

Sickle cell disease: The fight for survival starts early

C

pain called “crises.” A crisis occurs when red blood cells clump in the bloodstream and block the flow 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 hydroxyurea, an anti-cancer medicine that has proven effective in reducing crises. Although studied in How can I tell if my child has sickle adults, hydroxyurea is often offered to children as well. In some cases, bone marrow transplants cell disease? have cured the disease.

Fortunately, all 50 states There are as well as Washington, D.C., some things you Puerto Rico and the U.S. Virgin can do as a parIslands offer newborn screenent to keep your ing for sickle cell disease. Most child healthy and minimize states, including Massachusetts, complications. mandate the screening, which Prevent infections is usually performed within Antibiotics, adminis48 hours of birth. Since most tered twice a day from the screening programs have been age of two months to five in effect for several years, cases years, have proven sucare now caught early rather than Since 1990, the Massachusetts Department of Public Health cessful in has mandated newborn screening for sickle cell disease. later. The advantage to early lowering the screening is early treatment. incidence of infections in infants and children with sickle cell.

Helping children live well with Hand washing is one of the most sickle cell disease effective ways to prevent the spread of After learning their child has sickle cell disease, infections. Wash your hands before eating parents may wonder what life will be like for him or or preparing food, after using the toilet or her. Will it ever be normal? What should they do to help changing diapers, and after contact with prepare their child for the future? someone who has an infection. Use soap The quality of life will also depend on whether the and clean water or gel hand cleansers. disease is mild or severe and the effectiveness of treatFood safety can prevent salmonella, ments. Infections are a major problem for infants and bacteria especially harmful to children young children, and can be fatal. Sickle cell anemia can with sickle cell. Salmonella can be found harm the spleen, an organ that helps fight infections. In on fruits and vegetables, in dairy and addition, pneumonia is often the cause of death in young meat products, poultry and even on some children with sickle cell anemia. pets. To prevent contamination, wash The disease is also characterized by episodes of hands, cutting boards and utensils after touching unhildren 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 filled with school, family and other activities they enjoy. This is not to minimize 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.

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

Keep up with immunizations In addition to the regular childhood vaccines, a few extra are recommended for children with sickle cell disease. Yearly flu vaccines as well as pneumococcal and meningococcal vaccines for pneumonia and meningitis, respectively, are encouraged. Meningitis is an inflammation of the membranes that cover the brain and spinal cord, and can result in brain damage. Prior to the development of these immunizations, pneumonia was one of the leading causes of death in children with sickle cell.

Some experts recommend protection against hepatitis A as well.

Have regular checkups The 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 habits Children with sickle cell should drink lots of fluids — 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 attack. 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 doctor There are some symptoms that require immediate professional medical care.

• Fever above 101 degrees • Difficulty breathing • Chest pain • Abdominal (belly) swelling • Severe headache • Seizure • Signs of a stroke — sudden weakness, slurring of speech, numbness and tingling, sudden change in vision Because of advances in the treatment of sickle cell disease and better understanding of the disease, life expectancy has significantly increased in the past 20 years.

Resources for families and children Greater Boston Sickle Cell Disease Association

Purpose: 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 Sisters

Purpose: 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.org

Purpose: A fun, educational Web site for kids with sickle cell disease, their families and friends Web address: http://www.sicklecellkids.org

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Sickle cell disease Questions & Answers 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 flow 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.

A closer look Normal red blood cells are round and flexible and flow 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 flow of blood. When a body part is robbed of oxygen, it can result in pain and organ damage.

Lisa Michelle Owens, M.D. Medical Director 2. Can a woman with sickle cell disease Brigham Primary Physicians at have a healthy pregnancy?

Faulkner Hospital 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 flow 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 multiple 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 specific 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 treatment at this point.

Source: National Heart, Lung and Blood Institute.

Symptoms and complications • Anemia • Hand-foot syndrome — swelling in hand and feet due to blocked blood vessels • Crisis — pain episode • Infections — pneumonia, influenza, 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

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. Patients should consult their doctor about any specific 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 longterm 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 flu shots.

• Get sufficient rest and fluids, and avoid extremes in temperature to reduce oxygen loss and the risk for dehydration.

• Avoid conditions or activities that demand increased need for oxygen, such as competitive sports, physical overexertion or even stress.

Exercise is recommended, but know your limits. Low impact exercises, 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 flying 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 flow to certain areas. The decreased blood flow 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.

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Reid

its stickiness,” Okam explained. “It is well tolerated by many people. Still, the impact ticular child getting the defective gene is like varies by patient. Scientists are trying to determine why there are variable effects of tossing a coin. If two people with the trait hydroxyurea in different patients.” have children, there is a 25 percent chance Hydroxyurea works by mimicking fetal that each pregnancy can result in sickle cell hemoglobin, which protects the newborn anemia and a 50 percent chance that each from “sickling” up until about 6 months of pregnancy can result in sickle cell trait. If age. The medicine is not toxic like similar a person with the trait has children with a anti-cancer drugs and does not cause nausea person who has sickle cell disease, there is a 50 percent chance that PHOTO: COURTESY OF DANA FARBER CANCER INSTITUTE and vomiting.

Medications are one each pregnancy can result thing; lifestyle choices are in the disease and a 50 another. Amiel has adjusted percent chance that each accordingly. pregnancy can result in He had to make sure the trait. his coach was aware of his For Reid, the worst illness and limitations. “I part about the disease don’t overdo it in sports,” was that she didn’t know he explained. “Sometimes I much about it. That has lose my breath quickly.” changed over the years.

But the key is drinking Fortunately, when plenty of water. “I always Reid’s son Amiel was have a drink with me,” he born in 1993, mandasaid. “If I am outside and tory blood testing for run out of water, I buy some newborns was in effect. Maureen M. Okam, M.D. more.”

The Reids were notified Director of Hemoglobinopathy Sickle cell disease has of Amiel’s blood status Brigham and Women’s Hospital not slowed Amiel one bit. To within 24 hours of his say the least, he is not your typical teenager. birth. He did pretty well his first few years.

He is an honor student at Belmont High It wasn’t until preschool that his first crisis School. His favorite subject is science. He occurred. plays football, basketball, soccer and tennis.

His temperature soared. What seemed He excels at the piano and the cello. Last to be a “little cough” escalated into acute year he spent four days and three nights in chest syndrome, a common but serious Iceland through the generosity of the Icelancomplication of sickle cell disease. A dic Special Children’s Fund. pulmonary embolism — an obstruction He is quick to of an artery PHOTO: COURTESY OF CHILDREN’S HOSPITAL BOSTON point out his work in his lungs as an advocate with — worsened Children’s Hospital his condiBoston. A recent trip to tion. Like his Washington, D.C. saw older sister, Amiel meeting with Amiel was congressmen to fight hospitalized for children’s health for about 30 care coverage and days. health issues.

He reA couple of years members the ago, Amiel and his crises well. mother were invited to “The pain participate in a special was so bad,” Lynnie Reid (left) and her sons, Amiel (second airing of PBS’ “Nova he recalled. from left) and Isaiah (front) and husband Andrew ScienceNow” about “It’s sharp, (right), met with Massachusetts Sen. John Kerry in stem cell research. They excruciating. Washington, D.C., during Family Advocacy Day, sponsored by Children’s Hospital Boston. thought it would be a It was hard simple Q&A with host to breathe. It Neil DeGrasse Tyson. But it turned into can make you go crazy.” something much more.

According to Amiel, he was not really Because of his disease and his interest in aware of his illness until about second science, Amiel was invited to work in the regrade. “I noticed that I got sick more than search lab with Dr. George Daley, a physician other children,” he explained. “My mother and researcher at Children’s Hospital. Daley’s told me about my illness, but I didn’t fully interest is the use of stem cells to treat genetic understand.” blood disorders among other things.

Fortunately, his crises have subsided.

Amiel lights up when he discusses The last one was about six years ago. the potential to transform sickle cells into Amiel credits his good health in part to his normal red blood cells. medications — a regimen of hydroxyurea, “I might want to be a scientist or a docan anti-cancer drug that has been found to tor,” he said. work well in sickle cell patients.

But there is only one problem. “I’m “Hydroxyurea increases the fetal scared of hospitals,” he admitted. hemoglobin level in the blood and reduces

What are the odds?

continued from page 1

Surviving sickle cell disease It 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 year Take your meds Get regular checkups Control stress and find a support group

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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 …

25%

50%

25%

… 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 …

50%

50%

… 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

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 mandates screening for the disease within 48 hours of birth.

Timing is important. For the first 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 significant 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 transplantation.

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 assume 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 — another 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 flare-ups at a minimum.

Although her condition has improved, Demery admits she still has flareups 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 degree in biology and is planning to pursue a master’s degree in women’s health at Suffolk University in the fall. She is also an event planner and amateur photographer.

But she has become a bit of an advocate as well. In September, in commemoration 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.

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