Sickle Cell Anemia
Name Origin:
Sickle Cell Anemia was named because of the shapes of the blood cells in the affected person. When oxygen concentration becomes low, the normally round blood cells change shape. They look like long, thin crescent moons, or the farming tools known as sickles.
Sickle Cell Anemia was one of the first genetic disorders ever discovered. In 1910 the first researcher to identify it, James B. Herrick, observed "peculiar elongated and sickle-shaped" red blood cells.
Sickle Cell Anemia was one of the first genetic disorders ever discovered. In 1910 the first researcher to identify it, James B. Herrick, observed "peculiar elongated and sickle-shaped" red blood cells.
Causes:
Sickle Cell Anemia is a recessive genetic disorder, caused by a defect in the HBB gene, a gene that codes hemoglobin. It can only occur if two defective hemoglobin genes are present (SS). If a person has one normal (A) and one defective (S) hemoglobin gene, they will not be affected by the disorder, although there is a chance of passing it on to their children.
Effects:
This mutation causes hemoglobin, the protein in red blood cells that carries oxygen, to be produced in an abnormal form. Due to this 'abnormal' hemoglobin, the affected person's red blood cells will form into a sickle shape when oxygen concentration is low. These sickle-shaped red blood cells cannot carry as much oxygen as normal ones. Their strange shape can block narrow blood vessels, becoming stuck. This can cause lack of oxygen in the blood, pain, and weakness.
There are many common symptoms of Sickle Cell Anemia. Hand-foot syndrome occurs when blood vessels in hands or feet are blocked. It can cause pain, swelling, and fevers. Being tired, pale, or short of breath are also symptoms. Wherever sickle cells block the flow of oxygen, patients will feel unexpected and unpredictable pain. Another symptom is eye problems, the retina deteriorating when it does not get enough oxygen. Yellow skin and eyes are signs of jaundice, caused by fast breakdown of red blood cells. One last symptom is a slow rate of growth, in both children and adults.
There are many common symptoms of Sickle Cell Anemia. Hand-foot syndrome occurs when blood vessels in hands or feet are blocked. It can cause pain, swelling, and fevers. Being tired, pale, or short of breath are also symptoms. Wherever sickle cells block the flow of oxygen, patients will feel unexpected and unpredictable pain. Another symptom is eye problems, the retina deteriorating when it does not get enough oxygen. Yellow skin and eyes are signs of jaundice, caused by fast breakdown of red blood cells. One last symptom is a slow rate of growth, in both children and adults.
Treatments:
Unfortunately, there is no widespread cure for Sickle Cell Anemia currently. People who are affected by this disorder can be given medicine to relieve the painful symptoms and prevent blockages in their blood vessels. For a limited number of people, blood and bone marrow stem cell transplants can offer a cure. Scientists hope that a new treatment will be found soon.