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Sickle Cell Disease - Sickle Cell Disease symptom, treatment, causes

Sickle Cell Disease is an inherited blood disorder in which the red blood cells contain abnormal haemoglobin, called haemoglobin S. Red cells containing haemoglobin S become sickle shaped when they are released from bone marrow into the circulation. This shape makes them fragile and liable to be destroyed in the blood, causing chronic haemolytic ANAEMIA. The gene that causes haemoglobin S production is recessive, so must be inherited from both parents; people who inherit the gene from only one parent do not develop anaemia. Sickle cell disease occurs almost exclusively in Negroes.

Symptoms of anaemia (such as paleness weakness, shortness of breath and jaundice) usually beginin infancy. Acute crises may occur during the chronic anaemic state, often triggered by viral infections. Blood vessels may become blocked by oollections of abnormal, disintegrating red cells. leadingto a variety of symptoms resulting from disturb, blood supply to many organs and tissues. Disturbed bone formation and deformities of the bones are common. Susceptibility to infection.specially pneumonia, is increased

Sickle cell disease cannot be cured. At one time most sufferers died in childhood but, with modem treatment of anaemia and prompt treatment of infection, life expectancy has increased to over 40 years. Genetic counselling is available for people with sickle cell disease or a family history of it, so that any of them who might plan to have children can assess the risks.

Sickle cell anemia is an inherited form of anemia a condition in which there aren't enough healthy red blood cells to carry oxygen throughout your body. Normal red blood cells are disc-shaped and very flexible. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. Some people have mild symptoms, while others are frequently hospitalized for more serious complications. This process damages the red blood cell membrane, and can cause the cells to become stuck in blood vessels. This deprives the downstream tissues of oxygen and causes ischemia and infarction . The disease is chronic and lifelong. Individuals are most often well, but their lives are punctuated by periodic painful attacks. In addition to periodic pain, there may be damage of internal organs, such as stroke . Lifespan is often shortened with sufferers living to an average of 40 years. Sickle-cell disease occurs more commonly in people (or their descendants) from parts of the world, such as sub-Saharan Africa , where malaria is or was common, but it also occurs in people of other ethnicities.

The disorder affects the red blood cells which contain a special protein called haemoglobin (Hb for short). Under normal circumstances, your red blood cells are flexible and round, and they move easily through your blood vessels to carry oxygen to all parts of your body. These irregular-shaped blood cells die prematurely, resulting in a chronic shortage of red blood cells. Plus, they can get stuck when traveling through small blood vessels, which can slow or block blood flow and oxygen to certain parts of the body. This produces pain and can lead to serious complications. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.

Causes of Sickle Cell Disease

The common Causes of Sickle Cell Disease :

• Alcohol intoxication .
• Infection .
• Emotional stress .
• Pregnancy .
• Hypoxia (flying in unpressurized aircraft) .

Symptoms of Sickle Cell Disease

Some common Symptoms of Sickle Cell Disease :

• Fatigue .
• Rapid heart rate .
• Yellow eyes/skin .
• Jaundice.
• Breathlessness.
• Ulcers on the lower legs (in adolescents and adults).
• Delayed growth and puberty .
• Bone pain .
• Fever.

Treatment of Sickle Cell Disease

• Blood transfusions (for anemia, and to prevent stroke; transfusions are also used to dilute the HbS with normal hemoglobin to treat chronic pain, acute chest syndrome, splenic sequestration and other emergencies.).
• Drinking plenty of water daily (eight to 10 glasses) or receiving fluid intravenously (to prevent and treat pain crises).
• Pain medications (for sickle cell crises).
• Penicillin (to prevent infections).
• Hydroxyurea is a medication that has recently been developed that may help reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for frequent blood transfusions. The long-term effects of the medication, however, are unknown.
• Folic acid ( to help prevent severe anemia).