Sickle Cell Disease

What is sickle cell disease?

Sickle cell disease is an inherited disease that causes red blood cells --- the cells in our body that carry oxygen all over -- to be an abnormal "sickle" shape.

These abnormally shaped cells are fragile and can get stuck in small blood vessels, leading to episodes of severe pain, low blood count (anemia), serious infections, and damage to various organ systems.

Sickle cell disease is the end result of a defect in the gene that makes hemoglobin in the body. Hemoglobin is the part of the red blood cell that carries oxygen throughout the body.

In sickle cell disease, an abnormal hemoglobin called hemoglobin S is formed that causes the problem with the shape of red blood cells. These sickle cells are not able to pass through blood vessels as easily as the normal ones, so less oxygen is delivered throughout the body. In addition, the sickle cells are destroyed more quickly in the spleen, leading to the anemia.

This disease is most common among African Americans and some Latin Americans.

Other types of sickle cell disease can occur in people whose family background is from the Mediterranean area or India. The course of the disease may be mild in some people, while others will have severe complications of the disease and need frequent hospitalization.

Treatment / What you should do

If you suspect that your child has sickle cell disease you should consult a doctor, especially if someone else in your family has the disease or carries the sickle cell trait.

Sickle cell disease is diagnosed through a blood test.

There is no treatment to cure sickle cell disease, except for bone marrow transplantation.

Bone marrow transplant is seldom done because of the risks associated with the procedure, and the difficulty finding an appropriate donor.

It is important to see that any child with sickle cell disease gets regular medical examinations.

Pain relieving medicines, like acetaminophen and ibuprofen, can be used during periods of pain.

Daily treatments of penicillin will reduce the risk of infection.

Most doctors also strongly advise vaccinations such as influenza and pneumococcal vaccines to further decrease the risk of infection. You should discuss this with your doctor.

Supplements of vitamins and folic acid will stimulate the bone marrow to make more red blood cells.

Contact a doctor immediately if your child with sickle cell disease shows any signs of possible complications.

Be on the look out for subtle signs of infection and neurological symptoms, such as headache, or difficulty walking or talking.

Occasionally, patients may need blood transfusions to replace the destroyed red blood cells.