|
The oxygen in
the air that humans breathe needs to be carried all over the body. This
function is performed by the red blood cells which carry the oxygen to all
parts of the body. The hemoglobin in the red blood cells carry the oxygen.
Normally red blood cells have hemoglobin A and are in a round shape and are
soft which make it possible for the red blood cells to squeeze through tiny
blood vessels. Normally red blood cells have a life span of approximately
120 days after which they are replaced by fresh cells.
Those with sickle condition have red blood cells containing an abnormal type
of hemoglobin called Hemoglobin S. The red blood cells become crescent
(sickle) shaped and hard making it difficult for the cells to pass through
small blood vessels. Moreover the red blood cells in this condition have a
life span of only 16 days. When sickle-shaped cells plug up small blood
vessels, lesser blood reaches various parts of the body. This damages the
tissue that does not receive normal blood flow. This is what causes the
complications of sickle cell disease.
Sickle cell
disease is common in persons of African ancestry. It also affects persons of
South and Central America, the Caribbean, the Mediterranean, Arabia, and
East India.
Sickle Cell Trait is a condition where both Hemoglobin A and Hemoglobin S
are produced. Thus the person with Sickle Cell Trait are generally healthy.
Sickle Cell Tait can be determined by a blood testfollowed by a laboratory
technique called Hemoglobin Electrophoresis will determine the type of
hemoglobin you have.
There are various kinds of sickle cell disease. The most common are Sickle
Cell Anemia, Sickle-Hemoglobin C Disease, Sickle Beta-Plus Thalassemia and
Sickle Beta-Zero Thalassemia.
Sickle cell disease is an inherited disorder. The hemoglobin genes are
inherited from the parents on two sets... one from each parent. For example
if one parent has Sickle cell Anemia and the other is normal, the child will
have Sickle Cell Trait. If one parent has Sickle Cell Anemia and the other
has Sickle Cell Trait, there is 50% probability that the child will have
Sickle Cell Disease. If both parents have Sickle Cell Trait, there is a 25%
probability that the child will have Sickle Cell disease.
Complications : The lack of oxygen flow to tissues can lead to a
number of complications.
Acute Chest Syndrome - This is a serious condition caused by infection of
trapped red blood cells in the lungs. This results in fast or difficult
breathing, chest pain, and coughing.
Anemia (low red blood cell count) - Patient is easily tired
Aplastic Crisis - This leads to temporary lack of production of red blood
cells which result in paleness, low activity, fast breathing and fast
heartbeat.
Bone Necrosis - Degradation of bone tissue which can lead to hip
replacements and other complications.
Hand and Foot Syndrome - Painful swelling in the hands and feet
Severe Infections - Sepsis (blood stream infection), meningitis, and
pneumonia. The risk of infection is increased because the spleen does not
function properly.
Splenic Sequestration Crisis - The spleen is the organ that filters blood.
Rapid enlargement can result due to entrapment of sickled cells in the
spleen. This condition can be fatal.
Stroke - Occurs when sickled cells create a blockage within the brain. Signs
include seizure, weakness in the arms and legs, speech problems, and loss of
consciousness.
Treatment: There is no universal cure for sickle cell disease.
Research in gene therapy, the ultimate universal cure, is currently underway
which hope to offer a permanant and effective cure for this disorder.
Although, there is no cure, management of the disorder can help a patient
live with the disorder. Management of patients with sickle cell disease
starts with early diagnosis, preferably in the newborn stage and includes
vaccinations, penicillin prophylaxis and folic acid supplementation.
Complication management includes administration of oxygen, antibiotics, pain
management, intravenous fluids, blood transfusion and surgery. The patients
are best managed in a comprehensive multi-disciplinary program of care.
Advent of Sickle cell crises may include the administration of oxygen,
pain-killing drugs, and oral and intravenous fluids to reduce pain and
prevent complications. Anemia can be corrected by blood transfusions which
boost the number of normal red blood cells in circulation. In children,
regular transfusions also can help prevent recurring strokes, other
disabling nervous system complications and enlargement of the spleen before
they become life-threatening. Newer drugs and treatment are being utilised
like the anticancer drug hydroxyurea. Transplanting cord blood is another
emerging treatment.
With proper diagnosis and preventive care the quality the disorder may not
necessarily be fatal and the length of life can be managed effectively. In
1970, the estimated median expected survival was 20 years for affected
persons living the U.S. With advances in the diagnosis, treatment, and
prevention of complications, the life expectancy of persons with sickle cell
disease has now improved.
|