Linking Screening and Support for Sickle Cell

December 13, 2013

When Patrina Wells was born in 1993, her blood was screened for dozens of genetic diseases before she left the hospital. When the results came in, the news wasn’t great.

Wells’ mother received a call from the Georgia Department of Public Health (DPH) Newborn Screening program notifying her that her baby girl had sickle cell disease. Her initial reaction was fear. Neither Wells’ mother nor father had the disease, but they were both carriers of the gene that causes it. Her mother didn’t know how the disease would affect her daughter’s life.

Twenty years later, Wells also received a call from the Georgia Newborn Screening program notifying her that her baby boy, Alexier, has sickle cell disease, too. But instead of being afraid, Wells was informed by her own experience with the disease.

“It just made me aware of what's going on with my baby so that if there is something wrong, I can seek treatment,” Wells said.

Without a newborn screening test, families like the Wells would never know about certain genetic diseases their children carry. Like sickle cell disease, these conditions often have no outward signs or symptoms until there is a health emergency.

Georgia law requires that all newborns are tested for 28 inherited disorders through the state’s newborn screening program. This preventive public health measure identifies at- risk infants in the first weeks of life so that early intervention can be implemented to prevent disability or death.

Sickle cell disease is the most common disorder identified by newborn screening in Georgia, with one in 1,000 infants diagnosed with the disease; about one in 400 of those infants are African American. Georgia is estimated to have one of the largest sickle cell populations in the nation. 

Sickle cell disease affects a person’s hemoglobin, a protein that allows red blood cells to carry oxygen to all parts of the body. Healthy red blood cells are round and move easily through small blood vessels. But the disease causes some red blood cells to become hard, sticky and curved like a sickle. These cells can get stuck in blood vessels and block the normal flow of oxygen throughout the body, leading to a variety of health problems, including pain, strokes and organ damage.

Because of the early intervention they received, Wells and her parents learned to manage her disease with the help of health professionals at DPH, the Children’s Healthcare of Atlanta at Hughes Spalding Sickle Cell Center and the Grady Health System Sickle Cell Center. She became proactive as a teenager and learned as much as she could about the disease. To stay healthy, she takes prescribed medications daily, drinks plenty of fluids and stays current on her immunizations, including seasonal vaccines. With the strong support of her family and friends encouraging her to stay healthy, Wells was able to participate in her high school ROTC program. After graduation, Wells attended college and is making plans to finish her degree next year.

Her transition from parental care to independence and from pediatric to adult medical care was not too difficult because she had the support from her family and medical teams. DPH is currently working on identifying best practices that facilitate transition for all Georgians with sickle cell disease to independent self-care.

Wells said she feels very blessed and sees a great future for her son because of increased awareness of sickle cell disease, improved treatment options and research.

“Alexier can do and be whatever he wants to be because I will make sure that he understands his disease, and I will be able to guide him through life,” Wells said.

From 2010- 2012, Georgia participated in the Registry and Surveillance System for Hemoglobinopathies (RuSH) and currently the Public Health Research Education and Surveillance for Hemoglobinopathies (PHRESH), projects which were managed by the Centers for Disease Control and Prevention (CDC) and funded by the National Heart, Lung and Blood Institute and the National Institutes of Health. These projects are designed to collect information about people living with sickle cell disease. The information collected will lead to a better understanding of the health status and practices of Georgians with the disease and to identify areas to improve the delivery of health care.

For additional information, please call the Georgia Newborn Screening Sickle Cell Follow-up Program at (404) 657- 4143 or the Sickle Cell Foundation of Georgia, Inc. at (404) 755-1641. To learn more about sickle cell disease, visit the CDC’s website or the Sickle Cell Information Center

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December 13, 2013

The Georgia Department of Public Health (DPH) has been awarded $600,000 to add a critical test to its Newborn Screening program. This grant will allow Georgia to test all babies born in the state for Severe Combined Immunodeficiency (SCID). Georgia is one of only three states to receive this grant from the Centers for Disease Control and Prevention (CDC).

December 13, 2013

Orginally published Jan. 03, 2012