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What causes Sickle Cell Disease?

Sickle cell disease is caused by a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes, one from each parent.

How is Sickle Cell Disease Diagnosed?

Sickle cell disease is diagnosed with a simple blood test. It is most often found at birth during routine newborn screening tests at the hospital. Sickle cell disease can also be diagnosed before birth via amniocentesis or chorionic villus sampling. These tests analyze the DNA of the fetal cells.

Children with sickle cell disease are at an increased risk of infection and other health problems, therefore making early diagnosis and treatment extremely important.

If an individual is not diagnosed at birth, they can be tested by their primary care physician. A simple blood test called hemoglobin electrophoresis will determine if an individual has sickle cell disease.

Who does Sickle Cell Disease affect?

Sickle Cell Anemia affects millions of people worldwide. It is most commonly found in people whose families originate from: African, South or Central America, Mediterranean countries (such as Turkey, Greece and Italy), Caribbean islands, India and Saudi Arabia.

What are the most common types of Sickle Cell Disease?

There are many different types of sickle cell disease, but Hemoglobin SS, Hemoglobin SC, and Sickle Beta Thalassemia are the most common types of sickle cell disease.

• Hemoglobin SS is homozygous sickle cell disease.  The hemoglobin S gene is inherited from both parents.
• Hemoglobin SC is heterozygous sickle cell disease.  Hemoglobin S is inherited from one parent and hemoglobin C is inherited from the other parent. 
• Sickle Beta Thalassemia is heterozygous sickle cell disease.  Hemoglobin S is inherited from one parent and the beta thalassemia gene is inherited from the other parent.

What is Sickle Cell Trait?

Sickle cell trait is a condition in which there is one gene for the formation of sickle hemoglobin and one for the formation of normal hemoglobin. Usually, people with sickle cell trait do not have any medical problems and they can lead normal lives. They do not develop sickle cell disease.

I have Sickle Cell: When should I seek medical help?

If Sickle Cell patients experience the following symptoms, they should seek urgent medical evaluation:

• Fever
• Chest pain
• Shortness of Breath
• Increasing Tiredness
• Abdominal swelling
• Unusual headache
• Any sudden weakness or loss of feeling
• Pain that will not go away with home treatment
• Priapism (painful erection that will not go away)
• Sudden vision change

What are the complications of Sickle Cell Disease?

Anemia. Sickle cells are quite fragile and die easily, leaving you chronically short on red blood cells to carry oxygen to your tissues. This is known as anemia. Without enough red blood cells in circulation, your body can't get the oxygen it needs to feel energized. That's why anemia causes fatigue (feeling tired or weak).

Infections. Infections are a major complication of sickle cell anemia. In fact, pneumonia is the leading cause of death in children who have sickle cell anemia. Other common infections linked to sickle cell anemia include meningitis, influenza, and hepatitis.

Episodes of pain. Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Pain can also occur in your bones. The pain may vary in intensity and can last for a few hours to a few weeks. Some people experience only a few episodes of pain while others experience a dozen or more crises a year. If a crisis is severe enough, you may need hospitalization so that painkillers can be injected into your veins (intravenously).

Hand-foot syndrome. Swollen hands and feet are often the first signs of sickle cell anemia in babies. The swelling is caused by sickle-shaped red blood cells blocking blood flow out of the hands and feet.

Jaundice. Jaundice is a yellowing of the skin and eyes that occurs because of liver damage or dysfunction. Occasionally, people who have sickle cell anemia have some degree of jaundice because the liver, which filters harmful substances from the blood, is overwhelmed by the rapid breakdown of red blood cells. In people with dark skin, jaundice is visible mostly as yellowing of the whites of their eyes.

Frequent infections. Sickle cells can damage your spleen, an organ that fights infection. This may make you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia antibiotics to prevent potentially life-threatening infections, such as pneumonia.

Stunted Growth. Red blood cells provide your body with the oxygen and nutrients you need for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.

Bone Damage. Aseptic necrosis is a bone condition that results from poor blood supply to an area of bone causing bone death. This is a serious condition because the dead areas of bone do not function normally, are weakened, and can collapse.

Vision problems. Some people with sickle cell anemia experience vision problems. Tiny blood vessels that supply your eyes may become plugged with sickle cells. This can damage the retina — the portion of each eye that produces visual images.

Splenic Sequestration and Liver Congestion. The spleen and liver are both organs that are very active in filtering out abnormal or sickled red blood cells and helping to fight infection. Sudden pooling of blood in the spleen is referred to as sequestration. This can cause a very severe anemia which may require blood transfusions until the body can regenerate more cells. Liver enlargement occurs as the liver becomes congested with red blood cells as well. The liver is often firm and can become tender. Impaired liver function can result in yellowing of the eyes known as jaundice, can cause gallbladder inflammation, gallstones, nausea and vomiting.

Acute Chest Syndrome. This condition is a life threatening condition linked to sickle cell anemia. It is similar to pneumonia and is caused by an infection or sickle cells trapped in the lungs. Symptoms usually include chest pain and fever.

Stroke. Two forms of stroke can occur in people who have sickle cell anemia. One form occurs when a blood vessel in the brain burst, the other occurs when the vessel is blocked. A stroke can cause learning disabilities, brain damage, paralysis, long term disability or death.

Priapism. Males who have sickle cell anemia may have painful and unwanted erections. It happens because the sickle cells block the blood flow out of an erect penis. Overtime this condition can damage the penis and lead to impotence.

Gallstones. When red blood cells die, they release their hemoglobin. The body breaks down this protein into what is called bilirubin. Excess bilirubin can cause stones in the gallbladder. Gallstones can cause steady pain in the upper side of the belly, under the right shoulder that lasts 30 or more minutes. Symptoms of gallstones may include nausea, vomiting, sweating, fever, shills, clay colored stools, or yellowing of the skin or eyes (jaundice).

Leg Ulcers. Sickle cell ulcers or sores usually begin as small raised, crusted sores on the lower leg. Leg sores occur more frequently in males and most commonly occur between the ages of 10 and 50. Some heal quickly, but others can persist for years or return after healing.

What can be done to help prevent sickle cell complications?

Complications of Sickle Cell can occur episodically and spontaneously and are different for each individual. However complications can be provoked by certain known triggers. Triggers such as smoking, exercise, travel to high altitudes, or drops in oxygen or changes in air pressure that can occur during air travel should be avoided.

The following are general guidelines to keep the sickle cell patient healthy:

• Take folic acid (folate) daily to help generate new red blood cells
• Daily penicillin until age 6 to prevent serious infection
• Stay hydrated by drinking plenty of water (8-10 glasses for adults)
• Avoid temperatures that are too hot or too cold.
• Avoid over exertion and stress
• Get plenty of rest
• Get regular check ups from knowledgeable healthcare providers

How is Sickle Cell Disease Treated?

Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, and control complications (should they occur).

Bone marrow transplants may offer a cure in a small number of sickle cell anemia cases. Researchers continue to look for new treatments for the disease which currently include gene therapy and improved bone marrow transplants.