Hematology and Sickle Cell Anemia
- Red blood cells are normally disc shaped, but in sickle cell anemia they are sickle-shaped, or shaped like the letter "C." This is caused by abnormal hemoglobin, a red blood cell protein that binds oxygen. These so-called sickled cells are more fragile and are prone to rupturing, according to Medicine Net. Sickled cells rupture at a higher than normal rate, causing lower red blood cell counts and lower hemoglobin levels in blood, otherwise known as anemia. As well, these ruptured cells can cause blockages in blood vessels, impeding the normal flow of blood.
- Hematologists recognize sickle cell anemia from its symptoms, the majority of which result from impaired blood flow caused by ruptured cells. Patients have variable and intermittent crisis situations in which blood flow is impeded to specific organs or tissues, and then resolves somewhat, according to Medicine Net. Common symptoms include: fatigue, pain, eye damage, increased infection rates, leg ulcers, inflammation of the hands and feet and liver congestion.
- Currently there is no cure for sickle cell anemia. Treatments offered are aimed at reducing infection rates, controlling pain and preventing strokes, a constant risk with this disease. Bone marrow transplants may offer an effective treatment, where available, according to the National Heart Lung and Blood Institute. Mild to moderate pain is treated with acetaminophen and narcotics. Hydroxyurea may decrease the number of pain crisis episodes. Hematologists often administer blood transfusions to lower the risk of stroke, and the combination of antibiotics and vigilant vaccinations are used to prevent and/or treat infections.
- Individuals carry two copies of each of our genes, and they may be either dominant or recessive. Three possible combinations of these types of genes are possible, being two dominant genes, two recessive genes, or one dominant gene and one recessive gene. The latter is otherwise known as a carrier state. According to Medicine Net, the gene causing abnormal hemoglobin production in sickle cell anemia is a recessive trait, meaning that individuals with the disease carry two copies of the abnormal recessive gene.
- Serious diseases caused by recessive genes often die out of a population within a few generations due to the fact that those with the gene are often too sick to reproduce and therefore do not pass on their diseased genes. This is true unless either those with the disease or those that are carriers have some reproductive benefit. In the case of sickle cell anemia, being a carrier of the disease conveys an immunity to malaria, according to the Information Center for Sickle Cell and Thalassemic Disorders. In malaria-prone regions of the world, such as Africa where sickle cell anemia is most common, the carriers of the gene are more likely to survive to reproduce, therefore maintaining the diseased gene within the population.
Sickle Cell Anemia
Symptoms
Treatments
Heredity
Carrier Benefits
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