New Hope on the Horizon 

Screening for Sickle Cell Disease 

By Kauthar B. Umar, M.A.


Closing the Gap, Maternal Health • January/February 2004


When Andrew Chase suffered a stroke four years ago, his 

family was devastated. It wasn’t the severity of the stroke 

or the grueling rehabilitation that left them stunned, it 

was his age. Andrew was just three years old. But for this particular 

toddler, such complications were not completely unexpected. 

Like more than 72,000 Americans of predominately African and 

Mediterranean decent, Andrew was born with sickle cell disease (SCD), 

a type of genetic blood disorder.The March of Dimes reports that 10 

percent of children living with SCD suffer a stroke and can experience 

damage to blood vessels in the brain. By the time Andrew was five 

years old, he underwent bilateral brain surgery 

and today, at seven years old, he receives a Sickle-shaped 

blood transfusion every month. red blood cell 

“When you have a child Ê

with sickle cell and you see him in 

pain, it’s the absolute worst feeling in the world,” said Andrew’s red 

mother, Syreeta Chase. “The hardest 

thing is looking your child in the eye 

and knowing that you can’t do anything.” 

But now, thanks to federal dollars and advancing medical technology, there’s new hope for families affected by SCD. 

The Sickle Cell Disease Association of America reports that 1,000 

babies are born with SCD each year, making it one of the most prevaÊ

Healthy 

blood cell

funded under HRSA’s SCD and Newborn Screening Program through 

its Maternal and Child Health Bureau. For families affected by the 

disease, new preventive opportunities, advanced treatment and better 

outreach can save lives. 

Chase admits that access to outreach and education would have 

helped a great deal—approximately 2 million Americans carry the 

sickle cell trait and 1 in 12 African Americans have the trait. 

Like many parents, she was uneducated about and ill-prepared 

for the reality of SCD. She was unaware that Andrew’s father was a 

carrier of sickle cell disease and it wasn’t until her pregnancy with 

Andrew that she discovered that 

she also had the sickle cell trait 

(see next page). 

Today, Barbara Harrison, a certified genetics counselor from the Center for Sickle Cell Disease at Howard University Hospital, says that genetic testing has 

changed the face of SCD and other genetic dislent genetic disorders in the United States. Largely found in the minority community, sickle cell disease occurs in about one in every 600 

African American births and one in every 1,000-1,400 Hispanic 

American births, according to the National Institutes of Health (NIH). 

Three common types of sickle cell disease in the United States are 

hemoglobin SS, better known as sickle cell anemia, hemoglobin SC 

disease and hemoglobin sickle beta-thalassemia. 

The disease is caused by a mutation in one of the two genes that 

determines the structure of hemoglobin, a critical molecule found in 

red blood cells that transports oxygen from the lungs to other parts of 

the body. In patients with this disease, abnormal hemoglobin molecules stick to one another and form long, rod-like structures. 

Under a microscope, these abnormal cells may look like the Cshaped farm tool called a sickle. Sickle cells tend to become trapped 

and destroyed in small blood vessels, the spleen, liver and other organs. The result is a shortage of red blood cells, or anemia. 

While Andrew suffers from the most severe complications from 

SCD, the effects of the disease vary greatly from one person to the 

next. Sufferers can develop chronic severe anemia, infections and periodic episodes of pain. 

To improve services for infants with sickle cell and their families, 

the Health Resources and Services Administration (HRSA) awarded 

$3.6 million in October 2003 to projects that link comprehensive 

eases. 

Couples who are planning to have a baby can get carrier testing 

at medical centers and sickle cell treatment facilities throughout the 

country. A blood test called the hemoglobin electrophoresis, performed 

on both partners, is the most complete test for sickle cell trait and 

related conditions. 

“If they find out that both have the trait, then they need to know 

their options, and there are many,” said Harrison. “The first thing the 

couple should do is to appreciate the 25 percent chance that the 

offspring will not have SCD, instead of focusing on the 75 percent 

chance that they could. It’s quite possible for a couple to have kids that 

do not have the disease.” 

With the proper genetic testing, a couple with the trait can also 

undergo specific procedures to ensure that their baby will be free from 

SCD. In vitro fertilization and pre-implantation genetic diagnosis 

involve harvesting several eggs and sperm. After allowing the cells to 

grow for a number of days, genetic testing can be completed on the 

group of cells. Those cells that do not carry the disease or the trait are 

isolated and then implanted back into the mother. The process is 

expensive though, and doesn’t work all the time, Harrison warned. 

Once the baby is conceived, there are two main options for prenatal diagnosis, according to Harrison. Chorionic villus sampling, CVS, 

which has a one percent chance of miscarriage, is performed between 

the 10th and 12th weeks of pregnancy. A sample of the placenta is 

removed to allow doctors to test DNA and determine if the fetus has 

SCD. Amniocentesis, which involves sampling the amniotic fluid, is 

done after 15 weeks and has a 0.5 percent risk of miscarriage. 

“One sure thing is that you don’t have to unknowingly have a 

child with SCD in this day and age,” said Harrison. 

sickle cell treatment centers, state newborn screening programs and health care professionals to broad community-based organizations. The 17 two-year grants are Over the years, as this disease has become a legitimate 

continued on page 2>>>> 

Office of Minority Health Resource Center 1 U.S. Department of Health and Human Services 
New Hope on the Horizon 

Screening for Sickle Cell Disease 

By Kauthar B. Umar, M.A.


Closing the Gap, Maternal Health • January/February 2004


national health concern, postnatal testing has 

become routine. Today, nearly every state in 

the U.S., as well as the District of Columbia, 

Puerto Rico and the Virgin Islands, performs 

hemoglobin screenings on all newborns, regardless of race, to test for SCD. Children are 

usually diagnosed within their first few 

months, allowing for proper treatment to begin. 

NIH recommends that patients with 

sickle cell disease seek consistent treatment in 

order to manage the symptoms and limit the 

frequency of medical crises. Supplementation 

with folic acid, an essential element in producing cells, is recommended because of the 

rapid red blood cell turnover. Such treatment, 

in combination with newborn screening programs, parent education and penicillin prophylaxis to prevent infection, has aided in a 

drastic reduction in mortality rates in recent 

years. 

Currently, researchers are studying a 

number of new drug treatments to possibly 

reduce the severity and frequency of complications of the disease. These include treatment with an antifungal drug called 

clotrimazole, which may help prevent red 

blood cells from sickling. Hydroxyurea—approved in 1998 by the Food and Drug Administration for use in treating patients over 

the age of 18 with SCD—has improved the 

survival rate of some of the most severe patients, according to NIH. About 100 children with sickle cell disease have been cured 

through a bone marrow transplant, using donated bone marrow from an immunologically matched sibling. However, this approach carries a high risk—about 10 percent 

of children have died as a result of the transplant. 

For all of the advanced research and new 

treatments, though, Andrew’s mother still 

thinks there is work to be done to educate 

the public about the disease. 

“I think about Andrew and I want 

people to know about this disease,” she said. 

“I want them to be sensitive. I want them to 

be knowledgeable.” 

For more information, contact the Sickle 

Cell Disease Association of America at 800­

421-8453 or go to http:// 

www.sicklecelldisease.org 

For more information on the Sickle Cell 

Disease and Newborn Screening Program at 

HRSA, go to http://mchb.hrsa.gov/grants/ 

default.htm#sickle

For more information, contact the National Heart, Lung, and Blood Institute at 

301-592-8573 or go to http:// 

Trait vs. Disease 

When two people with sickle cell trait have a baby, there is a: 

 One in four chance (25 percent) the baby will inherit two sickle cell genes 

and have the disease. 

 One in four chance (25 percent) the baby will inherit two normal genes 

and not have the disease or trait. 

 Two in four chance (50 percent) the baby will inherit one normal gene and 

one sickle cell gene. The baby will not have the disease, but will have sickle 

cell trait like the parents. 

For more information, visit the National Institutes of Health Diseases and Conditions Index at http://dci.nhlbi.nih.gov/Diseases/Sca/SCA_Causes.html 

Information and charts/National Heart, Lung, and Blood Institute 

Signs and Symptoms 

The signs and symptoms of sickle cell anemia are different in 

each person. Some people have mild 

symptoms. Others have very severe 

symptoms and are often hospitalized 

for treatment. The most common symptoms or signs include, but are not limited to: 

 Anemia 

 Pain when sickle-shaped red blood 

cells block the flow of blood to an 

organ 

 Fatigue (feeling very tired) 

 Paleness 

 Yellowing of the skin and eyes (jaundice) 

 Shortness of breath 

 Swelling in hands and feet 

 Eye problems 

 Infections 

 Pneumonia and influenza 

 Hepatitis 

 Delayed growth and puberty 

 Sores (ulcers) on the legs. 

 Stroke 

 Gallstones 

Source: National Heart, Lung, and 

Blood Institute 

www.nhlbi.nih.gov/health/public/ 

blood/index.htm

Office of Minority Health Resource Center 2 U.S. Department of Health and Human Services