Overview

            Sickle cell anemia is a hereditary disorder most common in people of African descent. This affects the hemoglobin in red blood cells making them sticky, brittle, and sickle shaped.  The abnormal hemoglobin produced in the body is also known as HbS  and can clog blood vessels, depriving the body’s tissues of oxygen. The sickle cells also break down after ten to twenty days, as opposed to the four months it takes normal red blood cells to break down. This causes anemia, which is a red blood cell count that is below normal. Sickle cell anemia is a recessive trait. As many as one in twelve African Americans have the sickle cell trait but not the disease.

Mode of Inheritance

            Due to the fact that it is a recessive trait a person must inherit two sickle cell genes to suffer from the disease. A person who only has one sickle cell gene will not have the disease but may pass on the trait. For example, if two parents each had one sickle cell gene they both would not actually have sickle cell anemia. However if they had four children, theoretically, one would not inherit the trait at all, two would have one gene but not have the disease, and one would have inherit two genes and have sickle cell anemia. However, if only one parent had gene and the other had two normal blood cell genes none of their four children would have the disease though two of them (on average) would inherit one sickle cell gene.

Symptoms

            As a result of the sickle cells blocking veins and arteries, oxygen cannot get to the tissues and organs of the person leading to many health problems. Bouts of pain in various parts of the body, called pain crises, will occur due to the lack of oxygen. The frequency of these pain crises, however, varies from person to person. The afflicted may also have fevers, coughs, or trouble breathing. Due to the anemia caused by the disease, people with sickle cell anemia often feel lethargic and have trouble fighting infection. Curiously, teens with sickle cell anemia often grow more slowly and reach puberty later than normal. Other symptoms include an enlarged spleen, joint pain, and blood clots.

Treatments

            In most cases there is no cure for sickle cell anemia. However, some doctors believe that bone marrow transplants may offer a cure in some instances.  The main goals of treatment are to help relieve pain, and to prevent infection, eye damage, and strokes. The pain can often be treated by over the counter medicines, but severe pain crises are treated in hospitals. Babies with sickle cell anemia should take daily doses of penicillin until they are five years old to help fight infection. They should also get their vaccinations for pneumonia, meningitis, influenza, hepatitis, and get a yearly flu shot. Patients with sickle cell anemia should also have regular checkups with eye doctors who specialize in diseases of the retina to help avoid eye damage. The patients can try to prevent strokes by regularly getting ultrasounds of the head, or transcranial Doppler ultrasounds, starting at age two. This helps doctors to identify which patients are at high risk of getting a stroke. These patients then receive routine blood transfusions which helps minimize the risk of getting a stroke. Patients can also get blood transfusions when their sickle cell anemia worsens due to infection or an enlarged spleen.

Researchers are now testing whether or not gene therapy can help cure sickle cell anemia. They are trying to see if the body will make normal blood cells if they put a normal gene into the bone marrow of a sickle cell anemia patient. Another possibility that researchers are testing is if it is possible to “turn off” the sickle cell gene or “turn on” a normal blood cell gene.  If either of these instances works as a cure sickle cell anemia could soon be a disease of the past.

Diagnosis/ Prognosis/ Life Span of the Individual

            Doctors do a blood test on infants to diagnose sickle cell anemia by detecting HbS in the blood. If the first test shows sickle hemoglobin then a special blood test called hemoglobin electrophoresis can be used to confirm it. The prognosis for each individual depends on many factors, but in general, with proper health care, patients can live fairly normal lives. However, in the United States the average life expectancy for patients with sickle cell anemia is forty-eight years for women and forty-two years for men

Donation Information

            The goal of this foundation is to raise money to help pay for the treatment of patients who need financial aid. We hope to raise enough money to be able to help as many families as possible. The money we collect will help cover the  medicines patients need all the way to haspitol visits. If you want to learn more aboout donating e-mail the administer at foundation_donation@sicklecellanemia.org.

Citations

The above information all came from the following websites:

            http://www.kidshealth.org/teen/diseases_conditions/genetic/sickle_cell_anemia.html

            http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_Causes.html

            http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html