What is sickle cell disease?
Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all parts of the body.
Red blood cells are usually round and flexible, so they move easily through blood vessels. In sickle cell anemia, some red blood cells are shaped like sickles or crescent moons. These sickle cells also become rigid and sticky, which can slow or block blood flow.
There’s no cure for most people with sickle cell anemia. Treatments can relieve pain and help prevent complications associated with the disease.
Symptoms
Signs and symptoms of sickle cell anemia usually appear around 6 months of age. They vary from person to person and may change over time. Signs and symptoms can include:
Anemia. Sickle cells break apart easily and die. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells typically die in 10 to 20 days, leaving a shortage of red blood cells (anemia). Without enough red blood cells, the body can’t get enough oxygen and this causes fatigue.
Episodes of pain. Periodic episodes of extreme pain, called pain 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
The pain varies in intensity and can last for a few hours to a few days. Some people have only a few pain crises a year. Others have a dozen or more a year. A severe pain crisis requires a hospital stay.
Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers, and other causes.
Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood circulation in the hands and feet
Frequent infections. Sickle cells can damage the spleen, increasing vulnerability to infections. Infants and children with sickle cell anemia commonly receive vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia
Delayed growth or puberty. Red blood cells provide the body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers
Vision problems. Tiny blood vessels that supply the eyes can become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images — and lead to vision problems
Causes, Sickle cell anemia is caused by a change in the gene that tells the body to make the iron-rich compound in red blood called hemoglobin. Hemoglobin enables red blood cells to carry oxygen from the lungs throughout the body. The hemoglobin associated with sickle cell anemia causes red blood cells to become rigid, sticky and misshapen.
For a child to be affected, both mother and father must carry one copy of the sickle cell gene — also known as sickle cell trait — and pass both copies of the altered form to the child.
If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With one typical hemoglobin gene and one altered form of the gene, people with the sickle cell trait make both typical hemoglobin and sickle cell hemoglobin.
Their blood might contain some sickle cells, but they generally don’t have symptoms. They’re carriers of the disease, however, which means they can pass the gene to their FAMILY.
Complications
Sickle cell anemia can lead to a host of complications, including:
o         Stroke. Sickle cells can block blood flow to an area of the brain. Signs of stroke include seizures, weakness or numbness of the arms and legs, sudden speech difficulties, and loss of consciousness. If your child has any of these signs and symptoms, seek medical treatment immediately. A stroke can be fatal.
o         Acute chest PAIN. A lung infection or sickle cells blocking blood vessels in the lungs can cause this life-threatening complication, resulting in chest pain, fever and difficulty breathing. It might require emergency medical treatment
o         (HIGH BLOOD PRESURE. People with sickle cell anemia can develop high blood pressure in their lungs. This complication usually affects adults. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal.
o         Organ damage. Sickle cells that block blood flow to organs deprive the affected organs of blood and oxygen. In sickle cell anemia, blood is also chronically low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including kidneys, liver and spleen, and can be fatal.
o         Blindness. Sickle cells can block tiny blood vessels that supply the eyes. Over time, this can lead to blindness.
o         Condition, men with sickle cell anemia can have painful, long-lasting erections. Sickle cells can block the blood vessels in the penis, which can lead to impotence over time.
o         Deep vein thrombosis. Sickling of red cells can cause blood clots, increasing the risk of a clot lodging in a deep vein (deep vein thrombosis) or a lung (pulmonary embolism). Either can cause serious illness or even death
o         Pregnancy complications. Sickle cell anemia can increase the risk of high blood pressure and blood clots during pregnancy. It can also increase the risk of miscarriage, premature birth and having low birth weight babies.
Sickle cell disease and pregnancy
Sickle cell disease affects pregnancy depending on whether you have sickle cell disease or sickle cell trait. Some women with sickle cell disease have no change in their disease during pregnancy. In others, the disease may get worse. Painful events called sickle cell crises may still occur in pregnancy.
Generally, women with sickle cell trait don’ have problems from the disorder. But they may have a lot of urinary tract infections during pregnancy. Pregnant women with sickle cell trait can also have a kind of anemia caused by not having enough iron in their blood. If you have this type of anemia, you may need to take iron supplements.
In pregnancy, it’s important for blood cells to be able to carry oxygen. With sickle cell anemia, the abnormal red blood cells and anemia may result in lower amounts of oxygen going to your developing baby. This can slow down the baby’s growth.
How is sickle cell disease in pregnancy treated?
Pregnant women with sickle cell trait may not have any complications. But the baby may be affected if the father also carries the trait. If you have sickle cell trait, experts advise that your partner should be tested before you become pregnant. Or he should be tested at the first prenatal visit. If the baby’s father has sickle cell trait, you may need amniocentesis or other tests to see if your developing baby has the trait or the disease.
Some women may need blood transfusions to replace the sickle cells with fresh blood. These may be done several times during the pregnancy. Blood transfusions can help the blood carry oxygen and lower the number of sickle cells. If you get blood transfusions, you’ll be screened for antibodies that may have been transferred in the blood and that may affect your baby. The most common antibodies are to the blood factor.
What are possible complications of sickle cell disease in pregnancy
Because sickling affects so many organs and body systems, you are more likely to have complications in pregnancy if you have sickle cell disease. Complications and increased risks may include:
Infections, including infection in the urinary tract, kidneys, and lungs, Heart enlargement and heart failure from anemia
Miscarriage, death
Complications and increased risks for your developing baby severe anemia, poor fetal growth, preterm birth (before 37 weeks of pregnancy), low birth weight (less than 5.5 pounds) stillbirth and newborn death.
For further information, check WHO and Unicef websites, email to Dr Azadeh on [email protected], SEND TEXT MESSAGES ONLY TO WHATSAPP ON 002207774469.
Dr H. Azadeh, senior lecturer at the University of The Gambia, Clinical Director at Medicare Health Services.
