Early Diagnosis Key to Dealing with Sickle Cell Disease

If your child has been diagnosed with sickle cell disease, you will need to monitor his or her health closely. Sickle cell disease is an inherited blood disorder. Infants and young children with sickle-cell disease are at risk for life-threatening infections. Painful swelling of the fingers and toes, called dactylitis, also can occur in infants and children under 3 years of age with the disease.

Many states now perform hemoglobinopathy testing (testing babies for abnormalities of hemoglobin) as part of the newborn screening blood tests that are routinely don to detect serious, life-threatening diseases. State laws require that babies be tested between 2 and 7 days of age, even if the baby seems healthy and has no symptoms of health problems.

Early diagnosis is essential in providing proper preventive treatment for some of the devastating complications of the disease.

Red Blood Cells Affected

Sickle cell disease involves the red blood cells, or hemoglobin, and their ability to carry oxygen. Normal hemoglobin cells are smooth, round, and flexible, like the letter "O," so they can move through the vessels in our bodies easily. Sickle cell hemoglobin cells are stiff and sticky, and form into the shape of a sickle, or the letter "C," when they lose their oxygen. These sickle cells tend to cluster together, and cannot easily move through the blood vessels. The cluster causes a blockage and stops the movement of healthy, normal oxygen-carrying blood. This blockage is what causes the painful and damaging complications of sickle cell disease.

Sickle cells only live for about 10 to 20 days, while normal hemoglobin can live up to 120 days. Also, sickle cells risk being destroyed by the spleen because of their shape and stiffness. The spleen is an organ that helps filter the blood of infections and sickled cells get stuck in this filter and die. Due to the decreased number of hemoglobin cells circulating in the body, a person with sickle cell disease is chronically anemic. The spleen also suffers damage from the sickled cells blocking healthy oxygen carrying cells. Without a normal functioning spleen, these individuals are more at risk for infections.

Who Is Affected by Sickle Cell Disease?

Sickle cell disease primarily affects those of African descent and Hispanics of Caribbean ancestry, but the trait has also been found in those with Middle Eastern, Indian, Latin American, Native American, and Mediterranean heritage. It is an inherited disease caused by a genetic mutation.

It has been estimated that over 70,000 people in the U.S. are affected by sickle cell anemia and that 2 million have sickle cell trait. Millions worldwide suffer complications from sickle cell disease.

What Are The Symptoms of Sickle Cell Disease?

The following is a list of symptoms and complications associated with sickle cell disease. Each child may experience symptoms differently. Symptoms and complications may include, but are not limited to, the following:

  • All major organs are affected by sickle cell disease. The liver, heart, kidneys, eyes, bones, and joints can suffer damage from the abnormal function of the sickle cells and their inability to flow through the small blood vessels correctly. Gallstones are also more common in SS disease as is priaprism, a painful penile erection.

Treatment for Sickle Cell Disease:

Specific treatment for sickle cell disease and its complications will be determined by your child's physician based on:

  • Your child's age, overall health, and medical history

  • Extent of the disease

  • Your child's tolerance for specific medications, procedures, or therapies

  • Expectations for the course of the disease

  • Your opinion or preference

Early diagnosis and prevention of complications is critical in sickle cell disease treatment. Treatment options may include, but are not limited to, the following:

  • Pain medications (for sickle cell crises)

  • Drinking plenty of water daily (8 to 10 glasses) or receiving fluid intravenously (to prevent and treat pain crises)

  • Blood transfusions (for anemia, and to prevent stroke; transfusions are also used to dilute the HbS with normal hemoglobin to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies.)

  • A daily dose of penicillin beginning at 2 months of age until at least 5 years (to prevent infections).

  • Folic acid (to help prevent severe anemia)

  • Routine childhood vaccines in addition to flu vaccine, an additional pneumococcal vaccine given at age 2 and 5.

  • Bone marrow transplant (has been effective in curing some children with sickle cell disease; the decision to undergo this procedure is based on the severity of the disease and a suitable bone marrow donor. These decisions need to be discussed with your child's physician.)

Long-term Outlook

Several factors predict the long term survival of a child with this disease including the severity of the disease and how much preventive measures are followed.

The life expectancy has increased over the past 30 years and many individuals suffering with sickle cell disease can now live into their mid-40s and beyond. Advances in preventive care and new medications have reduced the life-threatening complications of sickle cell. However, it is still a severe, chronic, and sometimes fatal disease.

Online Medical Reviewer: Louise Jovino, DO

Date Last Reviewed: 4/6/2010

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