Everything you need to know about Sickle Cell disease including its symptoms and treatments!
Sickle cell disease is a hereditary blood disorder and one of the commonest genetic disorders known to affect many people. The disease has affected about 100,000 people in America. Usually it is known to affect Black Africans and Black Americans. Other races affected by this condition are Central and South Americans, people from the Caribbean, Mediterranean countries and India. The red blood cells contain haemoglobin which is an oxygen carrying protein found in the blood. These red blood cells or RBCs are round and flexible in shape so that they are able to easily navigate through the blood vessels in order to deliver oxygen to all parts of the body. Once the body gets affected by sickle cell disease, the red blood cells form into a crescent shape resembling a sickle. Such RBCs easily break apart resulting in anemia. While the normal RBCs survive for about 120 days the sickle shaped RBCs live for up to 10 to 20 days only. Here let us know about the various symptoms of sickle cell disease and the treatments available for the condition.
1 Symptoms of Sickle Cell Disease
The common sites to be affected by the sickle cell disease are liver, lungs, bone, muscles, spleen, brain, eyes, kidneys and penis. The affected person’s immune system weakens all of a sudden. They are highly vulnerable to infections such as pneumonia, flu viruses and salmonella. Severe pain is a first-hand symptom of this disease. The most common culprits to start such severe pain are:
- Hypoxia (reduction of oxygen in the body)
- Cold exposure
- Alcohol and drug abuse
- Parts of the body from where the disease starts!
There are four patterns of the acute sickle cell disease crisis based on the body part where it occurs. Let us see what they are!
2 Bone crisis
It generally starts with pain in the arm or leg. The area of pain becomes tender. Usually the larger bones of the arms and legs like the humerus, tibia and femur are affected.
3 Acute chest syndrome
Sudden acute pain in the chest with coughing of blood can be seen. The person may get fever and experience shortness of breath. Sometimes lung crisis is seen as a result of scarred lungs and other lung related problems.
4 Abdominal crisis
Sudden and constant pain in the abdomen can be seen in the affected person. The unrelenting pain is often followed by nausea, vomiting, and diarrhea.
5 Joint crisis
Joint crisis may occur either in a single joint or in multiple joints. The range of motion gets restricted. Usually the bony parts of the joint experience severe pain sometimes leading to permanent damage of the joint.
6 Impaired organs
A person affected with sickle cell disease can suffer from injury or impairment of organs like the lungs, eyes, kidneys, genitals, liver, spleen, etc. Anemia, shortness of breath, light-headedness and fatigue are also common. Heart attacks can even occur.
7 Treatments available
- The sickle cell crisis can be treated by the following options:
- Opioid pain medication such as morphine
- Antibiotics for infection
- Anti inflammatory medicines such as ibuprofen
- Intravenous or oral fluids
In order to prevent anemia and strokes, transfusions of red blood cells are given to the patient before surgery. Sometimes, an exchange transfusion is conducted with a special machine with the help of which the abnormal sickle red blood cells are removed and replaced with normal ones.
Hydroxyurea is the solo FDA approved medication that is known to prevent painful experiences in sickle cell disease. Research has revealed that regular use of hydroxyurea can decrease the frequency and severity of the sickle cell crisis. It also reduces the number of blood transfusions and hospitalizations.
The only curative treatment of sickle cell disease is Stem Cell Transplant. This can be done with the help of a matched sibling donor and there have been hundreds of successful cases that have been made possible with stem cell transplant. Though this process has 5% to 10% risk of death, many patients have been cured with this treatment with no further episodes of pain.
People with sickle cell disease have reduced life expectancy. But with the recent improvements in treatment techniques patients can now live longer and lead a better life. Now people with the condition can live beyond 60 years of age. Long term treatment with hydroxyurea may also prolong survival.