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Sickle Cell Anemia
Wednesday, 02 July 2003
Wednesday, 04 February 2004
Sickle Cell Disease

What

Sickle cell anemia is an inherited blood disorder in which the oxygen-carrying substance of red blood cells (called hemoglobin) is different from the common form. In normal red blood cells oxygen is carried by hemoglobin A, and these cells are smooth and doughnut-shaped. In those with sickle cell anemia oxygen is carried by hemoglobin S and these cells become stiff, sticky, and sickle-shaped once they deliver oxygen to the tissues of the body. Because of their odd shape the sickled-cells often clump together and get stuck in the blood vessels, or break apart. Since red blood cells are important for delivering oxygen throughout the body, many organs can become starved for oxygen, which may cause episodes of pain, damage and under-development of many organs. Also, since the red blood cells break apart, a low red blood cell count (anemia) usually results.

Who

Sickle cell anemia affects millions of people throughout the world, including those whose ancestors are from sub-Saharan Africa, Latin American countries such as Cuba, South America and Central America, Saudi Arabia, India, and Mediterranean countries such as Italy and Greece. In the United States it affects about 72,000 people, mostly African American (1 in 500) and Hispanic Americans (1 in 1000 to 1400).

Signs and Symptoms

: The symptoms of sickle cell anemia vary from person to person and can range from mild to severe. The common problem among all people with sickle cell anemia is the rigid, sickle-shaped red blood cells that clog the blood vessels and prevent the delivery of oxygen to tissues of the body. The most common symptom therefore is pain. Other symptoms may include:

  1. Jaundice (yellowing of the eyes and skin): due to the build up of Heme (found inside of red blood cells) in the blood from the breaking apart of red blood cells.
  2. Hand-Foot syndrome: pain and swelling in the hands and feet due to blockage of small blood vessels, usually accompanied by fever.
  3. Fatigue (tiredness) along with paleness, and shortness of breath: due to lack of red blood cells
  4. Delayed growth and puberty: because organs do not get enough oxygen to develop at a normal rate.
  5. Vision problems: due to damage of the retina (the part of the eye that sends visual information to the brain) from lack of oxygen.
  6. Infections: due to damage of the spleen (which helps the body fight bacteria) by sickled-red blood cells
  7. Acute Chest Syndrome (similar to pneumonia): caused by trapped red blood cell in the lungs. This is usually accompanied by fever, chest pain, and an abnormal chest x-ray.
  8. Stroke: the sickled-red blood cells can stick to the walls of blood vessels causing the vessel to become narrow. When this happens in the small blood vessels of the brain it can cause an ischemic stroke (lack of oxygen to an area of the brain).

Possible Causes

Sickle cell anemia results when a person is born with two copies of a gene (one from each parent) that contains a mistake in the way that it tells the body to make hemoglobin. When a person receives only one copy of the “mistake” gene, the person will not have sickle cell anemia, but will have the sickle cell trait. Those with the sickle cell trait make some sickled-red blood cells and some normal red blood cells. In this case there are usually enough normal cells to prevent symptoms of sickle cell anemia, but these individuals can pass the “mistake” gene on to their children.

Diagnosis

A blood test to identify hemoglobin S can be done to identify those who have sickle cell anemia; the test can also identify those with the sickle cell trait. This test is now routinely conducted at birth so that proper treatment can begin early.

Treatment

There are various treatments that can help prevent and lessen the severity of many of the complications of sickle cell anemia. Pain-killing medicines and intravenous fluids are given to reduce pain. Blood transfusions replace lost red blood cells to correct anemia. Blood transfusions can also to help prevent recurring strokes in children that are at high risk for them. Penicillin can be given at regular intervals starting when a child is age 2 months old until age 5, to prevent infections that can cause pneumonia (pneumococcal infections) during early childhood. Due to the development of antibiotic-resistant types of pneumonia-causing bacteria, other vaccines for the prevention of pneumococcal infections are also being tested. Medication is available which has been shown to decrease painful episodes and Acute Chest Syndrome in adults and is now being tested for use in children. Other treatments are given as symptoms occur and can include things such as eye surgery to reduce vision problems. Using an incentive spirometer (a small plastic tube that measures the deepness of one’s breathing) can help those with pain in their chest or back to breathe more deeply. Regular health maintenance, including regular check-ups with a physician, as well as proper nutrition, adequate rest, good hygiene, prevention of infection, and stress reduction are effective at helping to avoid complications. Bone marrow transplantation (transferring bone marrow- the substance inside of bones that produces red blood cells, from a person with normal hemoglobin to a person with sickle cell anemia) is the only cure for this condition. To conduct a bone marrow transplant a healthy donor with normal hemoglobin must be found whose bone marrow matches the patient’s. However, bone marrow transplants have risks and are only safe and effective in children. Research on how to correct the “mistake” gene as well as research on how to turn this gene off is ongoing and is another potential cure for sickle cell anemia.

Prognosis

With good health care, those with sickle cell anemia can live reasonably healthy and productive lives. In fact, individuals with this condition are increasingly surviving into their fifties and sixties.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The Sickle Cell Information Center of the Georgia Comprehensive Sickle Cell Center at Grady Health System
A well written, well organized site about sickle cell anemia with detailed information about the disease as well as about pain management issues.

American Sickle Cell Anemia Association
A great site that contains educational material, information about support groups and links to other related sites.

Facts about Sickle Cell Anemia
A thorough fact sheet for those affected by SSa. You must have Acrobat Reader to view this but Acrobat Reader can be downloaded for free.

Google Search for Sickle Cell Anemia

References and Sources

www.scinfo.org/sicklept.htm www.ascaa.org/educ.asp www.nhlbi.nih.gov/health/public/blood/sickle/sca_fact.pdf harrisons.accessmedicine.com/server-java/Arknoid/amed/harrisons/co_chapters/ch106/ch106_p01.html