LINCOLN, Neb. — September is National Sickle Cell Awareness Month and has been designated by Congress to help focus attention on the need for research and treatment of sickle cell disease, which is a global health problem.

Sickle cell diseases affect more than 50,000 Americans, primarily those of African heritage; 1 in 8 is a carrier of a sickle cell trait and many don’t know they have it. About one out of every 375 African-American children is affected by sickle cell disease, making it one of the most prevalent genetic diseases in the United States. Those of sub-Saharan decent have the greatest disease burden in the United States, with more than 300,000 babies born with the disease each year. The disease is common enough in the United States that there are about 100,000 people currently living with sickle cell disease but uncommon enough that medical professionals rarely see sickle cell disease patients. Mediterranean, Caribbean, South and Central American, Arabian or East Indian heritage are affected as well.

Sickle cell disease (SCD) is usually is found at birth with a blood test during routine newborn screening tests. A second blood test (called a hemoglobin electrophoresis) will confirm the diagnosis. This genetic condition is inherited when a child receives two sickle cell genes, one from each parent. A person with SCD can pass the disease on to his or her children. Sickle cell trait (SCT) is not a disease, but means that a person has inherited the sickle cell gene from one of his or her parents. People with SCT usually do not have any of the symptoms of SCD and live a normal life, but they can pass the sickle cell gene on to their children. Approximately 2,000 babies are born with SCD annually in the U.S.

SCT is very common in certain ethnic groups so it is important to know your trait status. About 9% of African Americans in the United States have SCT but only about 16% of adults of childbearing age in the United States know their SCT, even though newborn screening has been in place in most states since at least the 1990s. When both parents have SCT, they have a 25% chance of having a child with SCD with every pregnancy. When both parents have SCT, they have a 50% chance of having a child with SCT with every pregnancy.

The best way to find out if and how SCD runs in someone’s family is for that person to see a genetic counselor. These professionals have experience with genetic blood disorders. They also specialize in prenatal genetic counseling. The genetic counselor will look at the person’s family history and discuss with him or her what is known about SCD in the person’s family. It is best for a person with SCD or SCT to learn all he or she can about SCD before deciding to have children.

Women can have a healthy pregnancy with early prenatal care and careful monitoring throughout the pregnancy. However, women with SCD are more likely to have problems during pregnancy that can affect their health and that of their unborn baby.

A woman and her partner should get tested for SCT if they are planning to have a baby. Testing is available at most hospitals or medical centers, from SCD community-based organizations, or at local health departments. If a woman or her partner has SCT, a genetic counselor can provide additional information and further discuss the risks to their children.

During pregnancy, prenatal testing can be done to find out if a baby will have SCD, SCT, or neither one. The prenatal tests (chorionic villus sampling (CVS) and amniocentesis) often are used to find out if the baby will have the disease or carry the trait. These tests usually are conducted after the second month of pregnancy.

With early prenatal care and careful monitoring throughout the pregnancy, a woman with SCD can have a healthy pregnancy. However, women with SCD are more likely to have problems during pregnancy that can affect their health and that of their unborn baby. Therefore, they should be seen often by their obstetrician, hematologist, or primary care provider. During pregnancy, SCD can become more severe and pain episodes can occur more frequently. A pregnant woman with SCD is at a higher risk of preterm labor and of having a low birth weight baby. Women who have SCT also can have a healthy pregnancy. Pregnant women with SCT also should be monitored by their obstetrician or primary care provider for the same health complications as for all pregnant women.

These guidelines should be followed after a diagnosis of sickle cell disease has been confirmed:

1. Regular visits to a comprehensive sickle cell program or a pediatric hematologist and strict compliance in antibiotic administration are crucial to the health and future well-being of the baby. Parents should understand the importance of twice-daily doses of prophylactic penicillin as an effective measure to reduce both morbidity and mortality from pneumococcal infections in infants with all forms of sickle cell diseases.

2. Parents of infants with sickle cell disease should be instructed in all aspects of routine child care. They should be able to accurately check the infant’s temperature. They must be able to recognize early symptoms of complications, including the warning signs of inactivity, fever, pallor and respiratory distress. Parents should be taught to palpate the infant’s spleen and to recognize splenic enlargement. Parents must understand the importance of prompt assessment of the infant by a pediatric hematologist when fever, pallor, unexplained irritability, diarrhea, vomiting or other signs of illness are present. Fever of 101° F or greater requires immediate medical evaluation.

The sickle cells block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (commonly in the arms, legs, chest and abdomen), stroke and priapism (painful prolonged and unwanted erection). It also causes damage to most organs including the spleen, kidneys, eyes and liver. Damage to the spleen makes sickle cell disease patients, especially young children, easily infected by certain bacterial. Therefore, any fever in someone with sickle cell disease must be taken very seriously. Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of gallstones.

Health maintenance for patients with sickle cell disease starts with early diagnosis and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation.

Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery all backed by psychosocial support. Like all patients with chronic disease, patients are best managed in a comprehensive multi-disciplinary program of care. The majority of individuals with SCD live well into adulthood. Bone marrow (stem cell) transplants can, in some cases, cure sickle cell disease, but not all individuals are eligible for this procedure and there are associated risks.

For more information visit: Local health departments may provide a list of support services within the community and have information on early intervention services.

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