What is Sickle Cell Disease?
Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell disease have red
blood cells that contain mostly hemoglobin* S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped
(crescent shaped) and have difficulty passing through small blood vessels.
When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. Tissue that does not receive
a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently
no universal cure for sickle cell disease.
Hemoglobin – is the main substance of the red blood cell. It helps red blood cells carry oxygen from the air in our
lungs to all parts of the body. Normal red blood cells contain hemoglobin A. Hemoglobin S and hemoglobin C are abnormal types
of hemoglobin. Normal red blood cells are soft and round and can squeeze through tiny blood tubes (vessels). Normally, red
blood cells live for about 120 days before new ones replace them.
People with sickle cell conditions make a different form of hemoglobin A called hemoglobin S (S stands for sickle). Red
blood cells containing mostly hemoglobin S do not live as long as normal red blood cells (normally about 16 days). They also
become stiff, distorted in shape and have difficulty passing through the body’s small blood vessels. When sickle-shaped
cells block small blood vessels, less blood can reach that part of the body. Tissue that does not receive a normal blood flow
eventually becomes damaged. This is what causes the complications of sickle cell disease.
Types of Sickle Cell Disease
There are several types of sickle cell disease. The most common are: Sickle Cell Anemia (SS), Sickle-Hemoglobin C Disease
Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia.
What is Sickle Cell Trait?
Sickle Cell trait (AS) is an inherited condition in which both hemoglobin A and S are produced in the red blood cells,
always more A than S. Sickle cell trait is not a type of sickle cell disease. People with sickle cell trait are generally
Sickle cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color
and other physical traits. The types of hemoglobin a person makes in the red blood cells depend upon what hemoglobin genes
the person inherits from his or her parents. Like most genes, hemoglobin genes are inherited in two sets…one from each
If one parent has Sickle Cell Anemia and the other is Normal, all of the children will have sickle cell trait.
If one parent has Sickle Cell Anemia and the other has Sickle Cell Trait, there is a 50% chance (or 1 out of 2) of having
a baby with either sickle cell disease or sickle cell trait with each pregnancy.
When both parents have Sickle Cell Trait, they have a 25% chance (1 of 4) of having a baby with sickle cell disease with
How will I know if I have the Trait?
A SIMPLE PAINLESS BLOOD TEST followed by a laboratory technique called Hemoglobin Electrophoresis will determine the type
of hemoglobin you have. When you pass an electric charge through a solution of hemoglobin, distinct hemoglobins move different
distances, depending on their composition. This technique differentiates between normal hemoglobin (A), Sickle hemoglobin
(S), and other different kinds of hemoglobin (such as C, D, E, etc.).
Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of
The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain
episodes (arms, legs, chest and abdomen), stroke and priapism (painful prolonged erection). It also causes damage to most
organs including the spleen, kidneys and liver. Damage to the spleen makes sickle cell disease patients, especially young
children, easily overwhelmed by certain bacterial infections.
Health maintenance for patients with sickle cell disease starts with early diagnosis, preferably in the newborn period
and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation.
Treatment of complications often includes antibiotics, pain management, intravenous fluids, blood transfusion and surgery
all backed by psychosocial support. Like all patients with chronic disease patients are best managed in a comprehensive multi-disciplinary
program of care.
Blood transfusions help benefit sickle cell disease patients by reducing recurrent pain crises, risk of stroke and other
complications. Because red blood cells contain iron, and there is no natural way for the body to eliminate it, patients who
receive repeated blood transfusions can accumulate iron in the body until it reaches toxic levels. It is important to remove
excess iron from the body, because it can gather in the heart, liver, and other organs and may lead to organ damage. Treatments
are available to eliminate iron overload.
Promising Treatment Developments
In search for a substance that can prevent red blood cells from sickling without causing harm to other parts of the body,
Hydroxyurea was found to reduce the frequency of severe pain, acute chest syndrome and the need for blood transfusions in
adult patients with sickle cell disease. Droxia, the prescription form of hydroxyurea, was approved by the FDA in 1998 and
is now available for adult patients with sickle cell anemia. Studies will now be conducted to determine the proper dosage
Other treatment options in clinical development include new, more convenient options than current therapies to eliminate
iron overload caused by repeated blood transfusions.