Sickle cell anemia

Sickle cell anemia


Sickle cell anemia is a condition in which the body does not have enough healthy red blood cells to carry oxygen throughout the body. In sickle cell anemia the red blood cells are not flexible but sticky and are in the shape of sickles. These cells can slow down or block the blood and oxygen flow if they get stuck in small blood vessels because they cannot easily move through them. Sickle cell anemia is an inherited disorder that leads to the production of abnormal variants of hemoglobin which arise from gene mutations. The fetus produces hemoglobin F normally which is later replaced by hemoglobin A. Other changes, which include hemoglobin S and hemoglobin C, are the cause of sickle cell anemia.

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Sickle cell anemia cannot be cured but there are treatments that can prevent further disorders caused by it and they can relieve the pain. Two people with sickle cell traits have a fifty percent chance to have a child who is a carrier and a twenty five percent chance of having a child with sickle cell disease. If one parent passes the sickle cell gene to the child it will have one normal hemoglobin gene and one sickle cell hemoglobin gene. Their blood may contain sickle cells but and they don’t experience symptoms. The child is, however, a carrier of the disease and they can pass the defective gene to its child in the future.


Sickle cell anemia symptoms can usually be discovered when an infant is four months old. These symptoms include:

Anemia or decrease in red blood cells, followed by fatigue, paleness, breath shortage and skin and eyes jaundice. The red blood cells deficit causes slower growth in children. Adults with sickle cell disease are often of a small growth, and children with sickle cell disease reach puberty later than healthy children. Without red blood cells, the body cannot get enough oxygen and therefore the person is fatigued.

Pain is an inevitable symptom of the sickle cell disease. Obstructed capillaries and restricted blood flow leads to periodic pain crises, and their repetition cause irreversible damage to the organs. The pain cannot be predicted and some patients have these painful crises less than once a year while others may have them fifteen or more times a year.
There are three forms of pain in this case:

  • Acute, sudden pain that lasts for several hours to several days
  • Chronic pain that lasts during three to six months
  • A combination of the two

The repetitive pain includes the joints and soft tissues which is presented as hand and foot syndrome. When the small hand and feet vessels are blocked, pain, fever and swellings appear. This may be the first sign of sickle cell disease in children. When the pain crisis involves abdominal organs it can disrupt the normal functioning of the spleen and the liver can also be attacked and lose its function.

Sickle cell disease can also cause vision problems because the small blood vessels that supply eyes may be blocked with sickle cells.
It is important to diagnose the sickle cell disease as early as possible in children, because they have an increased risk of infections and other health complications. Nowadays, more than 40 countries apply a simple, inexpensive blood test for all newborns. This test is performed at the same time and in the same blood sample as other routine tests in the systematic examination of infants. If this test shows that there is a presence of sickle cell hemoglobin, another test is used to confirm the diagnosis. People who know that they are carriers of the sickle cell disease are often subjects to genetic counseling before having a child.


The treatment of sickle cell disease includes antibiotics, blood transfusions and sometimes surgery. Blood transfusions are applied in the worsening of the disease and complications. The sudden worsening of the anemia or infection which results in the magnification of the spleen is the most common reason for a transfusion. Some patients need transfusion as a prevention of life threatening complications such as strokes and pneumonia. The transfusion increases the number of normal red blood cells in circulation. However, due to the iron in red blood cells and the insufficient amount of time to eliminate it from the body, patients who receive blood transfusions can constantly accumulate iron in the body until it reaches its negative toxic level.

The bone marrow transplantation can be successful in the treatment of the sickle cell disease, but because of the consequences associated with it some patients try to avoid this procedure. The procedure can cause many serious complications and even death. This procedure requires a donation of the bone marrow from a donor who is a genetic match with the recipient. The cells from the umbilical cord blood are also used in the treatment of sickle cell disease, to a lesser extent. The donors have to be people who are related to the patient. Most children, however, do not have such a donor so the latest researches are based on blood stem cell transplants from donors who are not related to the patient.

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