Sickle cell anemia

About 1,000 babies are born each year with sickle cell disease.

Sickle cell anemia is a genetic life-long blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape.

Symptoms and health risks associated with the disease can be pain, infection, severe anemia, weakness and stroke.

Naomi L. Mathews, MA, Sickle Cell Disease Association (SCDA) outreach coordinator said, "As a part of our goals, education presentations in the community about sickle cell disease stress the importance of being tested for the trait, and communicating trait information with partners prior to family planning."

Outreach and education efforts in upper Pinellas, Pasco and Hernando counties reached more than 1,500 people in 2009.

"We held education presentations for schools, county governments, hospitals, state correctional facilities, agencies and churches," she said.

"The most important time of year for the SCDA is September, as it is our awareness month," she added.

In the United States, it most commonly affects African-americans and hispanics. However, the risk of inheriting sickle cell anemia comes down to genetics, not just race. For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene.

The gene is particularly common among people with African ancestry, according to the SCDA. However, sickle cell disease is the most common genetic blood disease, it is present in those of Portuguese, Spanish, French Corsican, Sardinian, Sicilian, mainland Italian, Greek, Turkish and Cypriot ethnicities.

Sickle cell disease also appears in Middle Eastern countries including Lebanon, Israel, Saudi Arabia, Kuwait and Yemen, making the disease a global health problem and challenge.

"Our goal in 2010 is to do even more," Mathews said, "as outreach coordinator, education presentations and outreach is my primary focus."

People who are at high risk for sickle cell anemia and are planning to have children may want to consider genetic counseling, recommends the SCDAA. A counselor can help them understand their risk of having a child who has the disease and help explain the choices that are available to them.

SCDAA advises that information is available about genetic counseling from health departments, neighborhood health centers, medical centers and other clinics that care for people who have sickle cell anemia.

What is Sickle Cell?
Dr. Gregory Hale, board certified in pediatrics and pediatric hematology-oncology, and director of pediatric hematology-oncology at All Children's Hospital in St. Petersburg said, "Sickle cell disease is an inherited blood disorder. Inherited from anemia, it is a blood condition where there are not enough healthy red blood cells to carry the needed oxygen in the body."

Normal red blood cells are flexible and rounded, so they can move easily through the blood vessels.
In patients with sickle cell anemia, their blood cells become rigid, sticky and are not rounded, they are crescent moon shaped.

These irregular-shaped cells get stuck in small blood vessels and can slow down or block blood flow and oxygen delivery through out the body, advises Hale.

"The only cure for this blood disorder is bone marrow transplantation, however, this treatment is risky," said Hale. "There are several other treatments available to relieve pain and to prevent further problems associated with sickle cell anemia."

Causes
Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin, the red, iron-rich compound that gives blood its red color, according to the SCDAA. Hemoglobin is a component of every red blood cell.

It allows red blood cells to carry oxygen from your lungs to all parts of your body and to carry carbon dioxide waste from throughout your body to your lungs so that it can be exhaled.

Under normal circumstances, your body makes healthy hemoglobin known as hemoglobin A. People with sickle cell anemia make hemoglobin S. The "S" stands for sickle.

The sickle cell gene is passed on from generation to generation, in an inheritance pattern called autosomal recessive inheritance.

This means that both mother and father have this gene and is passed onto the child.

Adults who have the sickle cell trait have one normal and one defective form of the hemoglobin gene. Because these adults have both, good and bad red blood cells, the body doesn't show any signs or symptoms to know they are carriers.

It appears when both the parents' recessive trait is passed to the child.

"In sickle cell patients, the anemia is not due to lack of iron in the body," advises Hale, "taking extra iron can actually be detrimental to these patients."

Tests
A blood test is used to check for the hemoglobin S condition.

This test is part of the standard routine for newborn screenings performed at the hospital. Older children and adults can be tested as well with a simple blood test.

If the test result is positive, additional testing is performed to determine if one or two gene condition is present.

If one gene is affected, the individual carries the sickle cell trait; it is sickle cell disease when it affects two genes.

Treatment
Regular medical screenings are recommended for sickle cell patients.

"Education about the complications from sickle cell disease is extremely important for the patients and their families," Hale said.

Treatments for sickle cell disease can involve pain management evaluation and treatment.
"Patients are typically advised to avoid extremes of temperature," advises Hale, "staying well-hydrated when engaging in physical activity or in hot weather."

Babies and children with sickle cell disease are urged to receive all immunizations recommended for prevention.

Also, some physicians may recommend taking antibiotics as early as 2 months of age, as an added prevention measure, up to age 5.

Should the child become very pale and/or tired, they have severe anemia.

Severe anemia is an urgent medical condition and should be treated quickly. Most treatments involve a blood transfusion.
Hydroxyurea (Droxia, Hydrea) normally used as a chemotherapy medication, mainly used to treat cancer, may be helpful for adolescents and adults with severe sickle cell disease.

It reduces the frequency of painful episodes and also reduces the need for blood transfusions.
Unfortunately, one in 10 children suffer from strokes with sickle cell disease, according to American Academy of Family Physicians.

Also, starting at age 10, children should have a periodic retinal eye exam to check the small blood vessels for stroke risks.

"Children with sickle cell disease should have an annual screening of their brain, to check the flow in the blood vessels, to determine the risk for stroke," recommends Hale.

Bone marrow transplant is an option for people who have significant symptoms and problems from sickle cell anemia.

Healthy bone marrow from a donor who doesn't have the disease can be a cure, but the procedure is risky.

It is also difficult to find suitable donors for all patients. Researchers are still studying bone marrow transplants for people with sickle cell anemia.