Sickle cell anemia is a type of anemia that is inherited; it appears mostly in people belonging to Africa, Central and South America, certain Mediterranean countries like Turkey, and eastern countries like Saudi Arabia and India. Sickle cell anemia patients inherit a defective gene from both parents, which makes their blood produce red blood cells that are abnormal. These red blood cells look similar to a crescent or a sickle, unlike the regular red blood cells that are shaped like a disc. The abnormal shape makes their movement in the blood vessels difficult, there by blocking blood flow to vital organs, causing pain and even organ damage. Not only is the shape a hindrance to the free flow of blood, these cells are also sticky and stiff. Normally, red blood cells circulate for about four months in the blood before they die and are replaced.
The sickle shaped cells last no longer than 20 days, and their early destruction leads to a severe shortage of red blood cells, resulting in anemia. Those who inherit the abnormal gene from a parent are said to have what is known as a sickle cell trait. Their bodies can make both normal cells and sickle cells. They are, however, capable of passing on their defective gene to their progeny. Variations of sickle cell disease, like sickle cell haemoglobin C disease and sickle cell haemoglobin E disease are also seen. Patients with thalassemia sometimes also inherit a sickle cell gene and symptoms like anemia are common in all.
Newborns in the US are routinely screened for sickle cell haemoglobin as soon as they are born. Complete blood cell count tests can establish the presence of the abnormally shaped sickle cells. A second test is done to confirm the finding, if sickle shaped red blood cells are identified. A sickle cell test confirms the presence of the abnormal haemoglobin in the blood, which can indicate a sickle cell trait or carrier as well as the disease of sickle cell anemia. Haemoglobin Electrophoresis is the most decisive of sickle cell anemia test, as it is conducted to identify the sickle haemoglobin in a blood sample. In cases where the parents have a sickle cell trait, gene testing can be done during pregnancy after ten weeks to identify the defective gene in the foetus.
People who inherit the defective gene that causes the generation of haemoglobin S from each parent are likely to suffer from sickle cell anemia. Chief among sickle cell anemia causes is the abnormal type of haemoglobin called haemoglobin S, which changes the shape of the red blood cells to a crescent shape. Out of the 23 pairs of chromosomes in every cell in the human body, the eleventh pair contains the gene that directs haemoglobin production in the body. A defect or mutation of this gene is at the root of sickle cell production. This mutation of the gene is usually seen in areas of the world where malaria is prevalent. A theory is that the mutation occurred as a defence against malaria, since people with sickle cell trait are not affected by the disease.
Sickle cell anemia symptoms in adults, kids, and women are very similar since all of them have sickle-shaped cells in their blood. The sickle shape of the red blood cells causes them to lose their capacity to carry oxygen, and this leads to anemia. Pale skin, fatigue, and delayed growth in children, all symptoms of anemia are observed in patients with sickle cell anemia. Jaundice or yellowing skin is one of sickle cell anemia symptoms because the rapid destruction of red blood cells causes a build-up bilirubin in the blood stream. The liver and the kidneys cannot get rid of bilirubin, a by-product of the breakdown of red blood cells fast enough to keep pace.
The most distressing fact of sickle cell anemia symptoms is the sickle crisis or pain crisis. When blood flow to an arm or a leg or any other part of the body is blocked because of the sticky sickle cells jammed in a narrow blood vessel, it results in a painful swelling, called a sickle crisis. It can be life threatening when the sickle cells in tiny blood vessels in the lungs block the flow of rich oxygenated blood to the rest of the body. Called an acute chest syndrome, this can occur to patients who are under the stress of a fever, infection, or dehydration. Repeated attacks of this syndrome can lead to irreversible lung damage. An enlarged spleen, stressed by the increased load from the destruction of red blood cells and by the pooling of sickle cells in the spleen, is another symptom.
Since sickle cell anemia is hereditary, treatment starts as early as possible to manage the disease and to avoid complications. Sickle cell anemia treatment revolves around easing the pain at times of sickle cell crises and managing the symptoms. Interruption of the flow of blood to the brain can result in serious neurological damage and precipitate a stroke. Averting pain crises is very important as any major organ in the body like liver, kidneys, gall bladder, and eyes may be affected if they do not get adequate flow of blood.
Patients are advised to drink plenty of water every day to avert and to treat crises. Folic acid supplements are given to treat anemia and improve the absorption of iron in the body and boost red blood cell generation. Blood transfusions may be given to dilute the presence of sickle cells in the blood and to prevent strokes. Bone marrow and stem cell transplant are treatments that may be considered in severe cases provided a suitable donor is found. In case of leg ulcers and frequent infections, penicillin may be used in the treatment. A recent addition to the list of medicines used to treat sickle cell anemia is hydroxyurea, which aids in cutting down the frequency of pain crises suffered by patients. It is also known to reduce the need for blood transfusions frequently.