Friday, December 9, 2011

Blood Disorder: Sickle Cell Anemia

Sickle Cell anemia is not a cancer but is treated by an oncologists at a local cancer center.  The local oncologist may refer the patient to a larger facility that has physicians that are specialists in hematology disorders.

Sickle Cell anemia is not a contagious disease but is a disease of the blood caused by inherited abnormal hemoglobin. Hemoglobin is the protein found in red blood cells that help transport oxygen throughout ones body. Sickle Cell disease is when a person inherits two abnormal genes, one from each parent. A person with a single Sickle cell is a carrier and will go on to lead a very normal life. 
This abnormality causes diseased cells to change shape from round to a crescent like shape, the cells become fragile and are prone to rupture. The odd shaped Sickle cells can also clog blood vessels which may cause organ and tissue damage.
bones, lungs,

Sickle Cell Trait

People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent have a condition called sickle cell trait. Their bodies make sickle hemoglobin and normal hemoglobin.
People who have sickle cell trait usually have few, if any, symptoms and lead normal lives. However, some people may have medical complications.
People who have sickle cell trait can pass the sickle hemoglobin gene to their children. The following image shows an example of an inheritance pattern for sickle cell trait.

Sickle Cell Symptoms

The initial symptom may be pain throughout the whole body.  This is an indication of a sickle cell crisis. This crisis may affect various organs and structures of the human body such as bones,lungs joints and abdomen.
Other symptoms include headaches,dizziness,shortness of breath,jaundice(yellow coloring of skin and whites of the eyes).  Also, the skin will appear whiter than normal.

How is Sickle Cell Diagnosed?

The initial test is a complete blood count.  The CBC includes testing of the white count,red count,hemoglobin, hematocrit, and platelet.  In Sickle Cell the hemoglobin and red count will be abnormally low.  The lab tech will be alarmed that a peripheral smear need to be made from the patient's blood specimen and viewed under the microscope. The lab tech will alert the doctor of the result and he will order more specific testing.
The test that is used for a confirming diagnosis is the hemoglobin S.

Sickle cell tests are used to detect, diagnose, and confirm sickle cell anemia (also called sickle cell disease) and to identify those who may have sickle cell trait. Sickle cell anemia is an inherited disorder that leads to the production of an abnormal hemoglobin called hemoglobin S (Hb S or Hgb S). Hemoglobin is a protein found in red blood cells (RBCs) that binds to oxygen in the lungs and carries it to tissues throughout the body.
Typically, hemoglobin A (Hb A) makes up most of the hemoglobin found in normal RBCs in adults, with small amounts of hemoglobin A2 and hemoglobin F. Before babies are born, they normally produce large amounts of hemoglobin F (Hb F), which is then slowly replaced by Hb A after birth. Mutations in the genes that code for the production of hemoglobin can lead to abnormal types of hemoglobin. Common mutations include beta thalassemia and those associated with hemoglobin variants such as Hb S, hemoglobin C (Hb C). With a normal hemoglobin gene copy from one parent and a Hb S gene copy from the other parent (heterozygous), a person is said to have sickle cell trait and be a sickle cell carrier. When a person has two Hb S gene copies (one from each parent; homozygous), then he has sickle cell anemia (disease). If he has one Hb S gene and one other abnormal gene, such as Hb C gene, then he will experience some of the same symptoms associated with sickle cell disease.
Hb S can form crystals that change the shape of the RBC from a round disc to a characteristic sickle shape. This altered shape limits the RBC's ability to flow smoothly throughout the blood vessels in the body, limits the hemoglobin's ability to transport oxygen to tissues, and decreases the RBCs' lifespan from 120 days to about 10-20 days. A person with sickle cell disease (homozygous for Hb S) can become severely anemic because the body cannot produce RBCs as fast as they are destroyed. The affected person can suffer painful episodes and a variety of complications when sickled cells become lodged in and obstruct small blood vessels.
Sickle cell tests are done to determine whether someone is producing hemoglobin S, thus carrying a sickle gene. They are ordered routinely as part of newborn screening programs and are mandated by every state in the US and the District of Columbia. If results of a newborn screen are abnormal, then one or more sickle cell tests may be ordered to confirm abnormal findings. Sickle cell tests may also be ordered along with or following an abnormal CBC and blood smear, with normal iron studies to help evaluate a patient who has an unexplained hemolytic anemia or demonstrate symptoms that suggest the presence of sickle cell anemia.

Sickle Cell Treatment

Sickle Cell patients have a low response of being cured through blood and bone marrow stem cell ,but  the  pain symptoms can be treated by medications, rest, heat pads, drinking lots of water and oxygen therapy.

Severe sickle cell anemia can be treated with a medicine called hydroxyurea. This medicine prompts your body to make fetal hemoglobin. Fetal hemoglobin, or hemoglobin F, is the type of hemoglobin that newborns have.
In people who have sickle cell anemia, fetal hemoglobin helps prevent red blood cells from sickling and improves anemia.
Given daily, hydroxyurea reduces how often painful sickle cell crises and acute chest syndrome occur. Many people taking hydroxyurea also need fewer blood transfusions and have fewer hospital visits.
Doctors are studying the long-term effects of hydroxyurea on people who have sickle cell anemia. Early studies in children suggest that the medicine may help improve growth and preserve organ function, but this has not been proven.
Hydroxyurea can reduce the number of white blood cells in your blood. (These cells help fight infections.) This can lead to an increased risk of infections.
People who take hydroxyurea must have careful medical followup, including blood tests. The dose of this medicine may need to be adjusted to reduce the risk of side effects.
A doctor who has knowledge about hydroxyurea can tell you about the risks and benefits of taking this medicine.
Clinical trials currently are under way for Sickle Cell Anemia. For more information about these studies, visit

For more information go to the following web sites:


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