Millions of people around the world suffer from Sickle Cell Anemia. Also known as Sickle Cell Disease, it is a genetic blood disorder that targets red blood cells. Since complications caused by this condition can potentially be fatal, it is essential to know more about it so proper management of symptoms and appropriate treatment can be done.
What is Sickle Cell Anemia?
The word sickle holds the clue as to what this condition is. It is basically a blood disorder that affects the hemoglobin. This is the molecule in red blood cells that transports oxygen to cells throughout the body. When this disorder kicks in, affected hemoglobin molecules alter the shape of the red blood cells. These cells end up with this thin, crescent shape much like a sickle hence the name of the disease.
Anemia is yet another key that unlocks the meaning of this condition. This means that one of the most easily distinguishable characteristics of this disease is low red blood cell count. This can only be confirmed through proper laboratory tests. Persons who are suspected to have Sickle Cell Anemia should be ready to be subjected to such tests so that their doctor can either confirm it or rule it out.
This particular blood disorder is genetic in nature. The problem is, the carrier of the mutated gene who causes the irregularity in the hemoglobin may not even know it. If he/she is paired with another person that might unknowingly be a carrier as well, there is a high probability that their child will suffer from Sickle Cell Anemia. For a person to have Sickle Cell Anemia, both his/her parents must have the abnormal gene. This is the reason why it is called an autosomal recessive disorder. An autosomal recessive disorder would require two copies of the abnormal gene, typically carried by both father and mother.
What causes Sickle Cell Anemia?
Researchers have traced the culprit of this unusual disease that affects millions of people globally. After a series of extensive studies, experts finally isolated the point of origin of Sickle Cell Anemia— mutations in the HBB gene. One has to understand that the hemoglobin is made up of four subunits. Two of those four are alpha-globin and beta-globin. This is where the HBB gene comes in. Typically, the HBB gene catalyzes the production of beta-globin. This gets disrupted when Sickle Cell Anemia is present. The mutated HBB gene causes the formation of abnormal hemoglobin S, hemoglobin C, or hemoglobin E which then targets the red blood cells causing them to take a crescent shape. One serious complication that may be caused by the mutated molecule is beta thalassemia. This condition reduces hemoglobin which then leads to a lack of oxygen supply for the body since it is the task of the hemoglobin to deliver oxygen to the different cells throughout the body. This can also lead to complications such as irregular sickled cells blocking blood vessels which can cause immense pain and organ damage. Why the molecules mutate still remains a question, however.
What are Sickle Cell Anemia symptoms?
Sickle cell anemia symptoms are not exclusive to this disease alone. The only way a person can definitively say whether it is sickle cell anemia or not is through seeing one’s doctor and being prepared to be subjected to a whole bunch of laboratory tests. While taxing, such efforts will be very beneficial to your loved one.
That said, there are still some telltale signs of this condition. Here are some Sickle Cell anemia symptoms:
- Aseptic Necrosis (localized bone death)
- Bacterial infection
- Eye damage
- General feelings of fatigue, listlessness, tiredness
- Inflammation or swelling of hands and/or feet
- Leg ulcers
- Lung and heart injury
- Pain Crisis
- Splenic Sequestration (sickled red blood cells are trapped in the spleen)
These symptoms do not manifest all the time. They intermittently surface and when they do, persons with Sickle Cell Anemia will have to contend with possible complications. This could lead to damage to tissue and organs because of lack of oxygen. This could cause lung or heart injury. Symptoms and their severity vary from person to person. This is what makes Sickle Cell Anemia so difficult to manage. It is unpredictable and can be fatal.
How is Sickle Cell Anemia diagnosed?
There is only one way and that is through a blood test. For adults, samples are usually drawn from the arm. For children, samples are drawn from a finger or heel. There is only one target of the blood test: to find the presence of hemoglobin S. Once found, the doctor will have to subject samples to more tests to determine whether the patient is really suffering from Sickle Cell disease.
Blood tests can also show if you are a carrier or not. If you are, you might be referred to a genetic counselor. Genetic counselors will give you more information about Sickle Cell Anemia particularly how it is inherited.
Can a sickle cell crisis be treated?
There is only one possible cure for Sickle Cell Anemia and that is through a bone marrow transplant. This is a very difficult process with death as a constant risk. However, when the operation is successful, there is a high probability that the condition will be cured.
If a bone marrow transplant is not feasible for the moment, treating Sickle Cell Anemia symptoms is the next best thing. Medications such as pain relievers and antibiotics are introduced to counter a pain crisis or a bacterial infection respectively. It is best to consult a doctor before taking in anything to ensure that you are getting the right dosage. Another form of treatment is blood transfusion in order to raise a person’s red blood count which becomes abnormally low during bouts with Sickle Cell Anemia.
Experimental treatments are also available but these are not for the faint-hearted. Given that they are experimental, their actual results are not ironclad yet. One of these treatments is gene therapy. One of their approaches is to introduce a healthy gene into the bone marrow and see how it interacts with affected hemoglobin. Yet another experimental treatment is using a variety of drugs designed to boost healthy hemoglobin production. Again, researchers will check how healthy hemoglobin will react to hemoglobins.
Despite the negative prognosis for patients living with Sickle Cell Anemia, it does not have to be a death sentence. Make sure you check with your physician regarding what kind of treatment would be best for your case.