Sickle Cell Disease

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 permanent 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.

Source: nacionfarma.com

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