Sickle cell anemia is a severe hemolytic anemia that occurs from a rare inheritable disorder of a sickle cell hemoglobin gene which results in an odd sickle cell shape erythrocyte incapable of efficiently carrying hemoglobin ( the iron containing oxygen transporting protein in the RBC. What constitutes this type of anemia is the gene that is responsible for the indefinite shape of the red blood cell is defective.
In sickle cell anemia, there the red blood cell appears long and rigid that adheres to the endothelium of small vessels; when they adhere to each other, blood flow to a particular region or organ system may be significantly reduced. If ischemia or infarction occurs, the individual may experience pain, swelling and low-grade fever. The sickling process is usually an insidious process that takes time; if the RBC is again exposed to sufficient amounts of oxygen before the membrane becomes too rigid, it reverts back to its normal shape .
Clinical manifestation of sickle cell anemia
Symptoms of sickle cell anemia may vary and are only to some extent based on the amount of sickle hemoglobin. Symptoms and complications result from chronic hemolysis or thrombosis. The sickle red blood cell has a shortened lifespan (less than 90 days) than normal healthy erythrocytes. Anemia is generally present as well as jaundice, which is more evident in the sclera of the eyes. The bone marrow expands in childhood in a compensatory effort to offset the anemia, often times leading to the enlargement of the bones of the skull and the face.
Virtually all organs may be affected and are vulnerable to microcirculatory interruptions of the sickling process and therefore highly susceptible to hypoxia related damage. Individuals with sickle cell anemia are normally susceptible to infection and several other complications such as stroke, renal failure, impotence, myocardial infarction and heart failure.
Prognosis of individuals with sickle cell anemia
Patients with sickle cell anemia generally have low levels of hematocrit and hemoglobin count in their blood chemical evaluation. Individuals are normally diagnosed with this disorder in their early childhood, because they are found to be anemic in infancy and begin to have a sickle cell crisis at the age of two. Some children die within the first year of life typically from infection, but with rigid treatment, antibiotic therapy and patient teaching strategies, the survivability of patients have increased over the years. With current management strategies and treatment modalities, the average life expectancy is still limited to 40-45 years, often with young adults forced to live rigid monitoring and management of complications from the disorder.
Medical management of sickle cell anemia
Presently, the treatment for sickle cell anemia is predominantly supportive
and is still focused in continued research and trial medications. Aside from the equally important aggressive management of clinical symptoms and complications, there are currently only two primary treatment modalities for sickle cell diseases namely; bone marrow transplantation and long term red blood cell infusion. With bone marrow transplantation being the most sought after permanent cure, it is only available to a small subset of individuals affected with sickle cell anemia because of the lack of compatible donors for patients to receive transplantation.