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.
Normal red blood cell Sickle-shaped red blood cell 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 (SC)
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 healthy.
Inheritance
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 parent.
Examples:
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 each pregnancy.
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.).
Medical Problems
Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice
and the formation of gallstones.
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.
Treatment
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 for
children.
Other treatment options in clinical development include new, more convenient options than current
therapies to eliminate iron overload caused by repeated blood transfusions.
Source: Sickle Cell Disease Association of America
- Overview of Clinical Manifestations of Sickle Cell Disease, Stephen H Embury, MD & Elliot P
Vichinsky, MD
- Sickle Cell Disease Overview, Athena C. Pefkarou, MD, January 13, 2006
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.
Normal red blood cell Sickle-shaped red blood cell 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 (SC)
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 healthy.
Inheritance
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 parent.
Examples:
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 each pregnancy.
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.).
Medical Problems
Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice
and the formation of gallstones.
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.
Treatment
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 for
children.
Other treatment options in clinical development include new, more convenient options than current
therapies to eliminate iron overload caused by repeated blood transfusions.
Source: Sickle Cell Disease Association of America
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