Exploring Sickle Cell Anemia
Anemia is a condition in which the amount of normal hemoglobin in our body is markedly reduced or there is a significant reduction in the red blood cell (RBC) count in our body. There are a variety of types of anemia that may affect people. Iron deficiency anemia is the main culprit behind most cases of anemia. In these cases, red blood cells (RBCs) and hemoglobin become unable to transform oxygen into vital components of the body, which causes the muscles to work irregularly. A certain type of anemia can also be caused by lead poisoning.
Lead poisoning occurs when the human body is exposed to and takes in excessive amounts of lead. It can cause multiple organ issues or even organ failure. Lead can settle in the kidneys, causing them to lose their ability to purify the fluids in the body and extract important nutrients. Apart from this type of anemia, the most dangerous and painful form is the sickle cell anemia.
Sickle cell anemia is very common among the African population. However, the condition is also seen in other parts of the world and has become a growing problem today because of its expansion through inheritance and as a result of poor iron consumption and supply in the body over long periods of time. Patients with anemia may experience extensive symptoms that can cause problems in their daily lives.
What is sickle cell anemia?
The origin of this type of anemia has been found to be purely hereditary, meaning, the condition is caused by the passing on of the disease from generation-to-generation. Sickle cell anemia works differently than its counterparts. It is most commonly observed in tribal areas and areas that have a lack of medicinal resources. The lack of proper medical care often results in extensive family histories of genetic diseases. Consanguineous mating that is practiced among tribal people also influences this condition. Sickle cell anemia acts by creating a dysfunction in the body's red blood cells (RBCs) by continuously attacking them and altering their shapes and sizes.
Sickle cell anemia is a result of a single gene mutation. The gene that is affected here actually codes for the beta globin chain present in hemoglobin type A. Hemoglobin A (Hb A) makes up around 96-97 percent of the total human adult hemoglobin. As a result of this gene mutation, there is a defect in the synthesized beta globin chain. Unlike what we see in thalassemia, where there is a quantitative problem in beta globin chains, in sickle cell anemia, it is more of a qualitative problem. Interestingly, the disease is actually manifested in a child only if it inherits the mutated gene from both parents. If a child receives only a single mutated gene either from the father or mother, then the child will only have a mild disease and merely acts as a carrier of the disease. It means that the child may pass on the disease to the next generation without getting affected by itself. This condition is termed as the "sickle cell trait". Another interesting fact is that both carriers and the people who have sickle cell anemia are less prone to malaria. Plasmodium parasites are the ones that cause malaria. They neither enter into these sickle cells nor multiply within them.
In a healthy person, the red blood cells (RBCs) are very flexible and round in shape, which makes it easy to move through the blood vessels smoothly. However, in individuals who have sickle cell anemia, the red blood cells (RBCs) become very inflexible, sticky, and oddly shaped crescent moons resembling a sickle. The odd-shaped red blood cells (RBCs) can block the flow of blood and oxygen to different parts of the body. This illness is called as sickle cell anemia due to the shape of the red blood cells (RBCs), which is similar to a sickle (a C-shaped farm tool).
Sickle cell anemia has no cure yet. However, there are certain treatment options available that can relieve pain and prevent other symptoms that are linked with the condition.
Symptoms of Sickle Cell Anemia
1) Anemia
The sickle cells usually break apart fast and die, which causes an insufficiency of red blood cells (RBCs). In normal circumstances, the red blood cells (RBCs) survive for around 120 days before they get replaced. However, a sickle cell dies in just 10 to 20 days leading to anemia because of the shortage of red blood cells (RBCs) in the body. When there are lesser red blood cells (RBCs), the body cannot receive the required amount of oxygen to remain energetic and active, thereby causing weakness and fatigue.
2) Periodic Episodes of Pain
A person who has sickle cell anemia will have episodes of pain called as "crises", which is also one of the main symptoms of sickle cell anemia. Pain occurs when the sickle-shaped red blood cells (RBCs) block the passage of blood through the small blood vessels to various parts of the body like the chest and joints. Some people experience pain even in their bones. The severity of the pain will vary depending on the blockage and can last for a couple of hours and can even extend to weeks. However, some people only experience a few episodes of pain, while others may have plenty of painful episodes. In certain cases, if the crisis is very severe and causes unbearable pain, the person will have to be hospitalized. A few youngsters and adults may experience chronic pain due to bone and joint injuries, ulcers, and some other factors.
3) Painful Inflammation of the Hands and Feet
The inflammation is due to the sickle-shaped cells that tend to obstruct the flow of blood to the hands and feet.
4) Regular Infections
Sickle cells can harm the spleen, an organ that produces white blood cells (WBCs) and fights infections. For this reason, a person who has sickle cell anemia will be more susceptible to infections. That is why doctors normally provide sickle cell patients with vaccinations and antibiotic doses to protect them from fatal infections.
5) Slow Growth
The red blood cells (RBCs) are responsible for providing oxygen and nutrients that are required for the body's proper growth and development. However, the lack of healthy red blood cells (RBCs) can slow the growth of small children and delay puberty among adolescents.
6) Vision Problems
The small blood vessels that provide blood flow to the eyes may get blocked with the sickle cells. The blockage can harm the retina, which can cause vision problems.
The other symptoms of sickle cell anemia include shortness of breath, headaches, and changes in both skin appearance and mucous membranes. Jaundice and other body pains are also commonly observed among individuals who have the condition.
Consequences of the Disease
- Weakness and fatigue
- Pain in the joints and bones
- Poor physical development
- Enlargement of spleen
- Impaired mental function
- Cholelithiasis
- Other diseases involving the heart, kidney, and lungs
When to Seek Medical Attention
Even though sickle cell anemia can be diagnosed early in babies, if a child develops any of the following problems mentioned below, consult a doctor immediately to understand the root cause of the problem.
- Unexplained pain: If a child experiences unexplained episodes of pain in any part of his or her body like the chest, abdomen, joints, etc.
- Swelling of the hands, feet, or abdomen: Particularly, if the swollen area becomes tender to touch.
- Fever: Individuals who have sickle cell anemia are more prone to infections. Hence, fever can be an initial sign of infection that needs to be diagnosed and treated.
- Changes in skin color: Observe skin color changes, which include having a pale skin and yellowing of the skin or the white portion of the eye.
- Signs of stroke: If there are any signs of stroke such as paralysis of one side of the body, weakness, difficulty in walking or talking, a sudden blurry vision, numbness, and headaches are experienced, then the person should be immediately rushed to the emergency section of the hospital.
What are the complications?
Some of the complications associated with sickle cell anemia are as follows:
1) Stroke
There is a possibility of a person with sickle cell anemia to suffer from a stroke when sickle red blood cells (RBCs) block the flow of blood to a portion of the brain. Some of the signs of stroke include weakness, unexplained numbness of the arms and legs, seizures, sudden speech problems, and loss of consciousness, among others. If an infant or child is experiencing any of these symptoms, then seek immediate medical attention since having a stroke can be life-threatening.
2) Acute Chest Syndrome
This condition can be caused by a lung infection or blockage of the blood vessels in the lungs by the sickle cells. This fatal syndrome can lead to pain in the chest, fever, and breathing problems. This complication will have to be treated immediately with the help of antibiotics and other treatment options.
3) Pulmonary Hypertension
Individuals who have sickle cell anemia may tend to develop pulmonary hypertension, which is high blood pressure in the lungs. This problem is more common among adults than children. Some of the signs of this complication are difficulty in breathing and tiredness.
4) Organ Damage
When the sickle cells obstruct the flow of blood to any particular organ, it will deprive that organ of blood and oxygen. In sickle cell anemia, the blood is already short of oxygen-rich red blood cells (RBCs). The condition can lead to nerve and organ damage, which include damages in the kidney, liver, and spleen. Organ damage is a very serious condition.
5) Blindness
Sickle cells block the small blood vessels that provide the flow of blood to the eyes. Gradually, the blockage can damage the retina of the eye, leading to blindness.
6) Leg Ulcers
Leg ulcers are relatively common in sickle cell anemia. It is a chronic and disabling complication for people who have sickle cell anemia. The ulcers are usually quite difficult to treat, and healing may take up to several months or even years.
7) Gallstones
The fast breakdown of the red blood cells (RBCs) in the body can create bilirubin, and a high level of bilirubin in the body can cause the formation of gallstones.
How does sickle cell anemia affect the body?
The red blood cells (RBCs) found in the human body are normally oval and round in shape to allow them to pass through veins and arteries. Their shape makes them highly distinct and easily identifiable in comparison to other cells. Sickle cell anemia targets this specific characteristic of the red blood cells (RBCs) and alters the cells' shape into moon-like structures. Scientific research has concluded through various blood tests that the shape of sickle cells is almost deformed into a crescent shape. Such deformity causes the RBCs to become stuck in the veins, and eventually die.
When red blood cells (RBCs) get stuck in a person's blood vessels, severe pain can be experienced in all parts of the body, which is probably because of the extensive tissue damage caused by low oxygen tension. The sickled blood cells are destroyed more rapidly than the normal ones leading to anemia. Since the discovery of sickle cell anemia, much research is being done to modify its treatments, striving to make to them more efficient and even to help make patients less vulnerable to the disease.
Treatment for Sickle Cell Anemia
The current and most common treatment method for helping people with sickle cell anemia is a bone marrow transplant. It requires the transplantation of an unaffected bone marrow from a healthy person into the diseased patient. The bone marrow is the main production hub of red blood cells (RBCs), thereby making it also as the main source of sickle cell production. When a healthy bone marrow is transplanted efficiently, it makes new cells in the body and replaces the sickle cells. It also allows the patients' bodies to perform the normal functions of red blood cells (RBCs) on their own. Medical advancements in developed countries have already made bone marrow transplants safer and more effective, even for children, whom this procedure used to be critical.
Blood transfusion and pain management using drugs are also advised. If proper care is given, the patient may be able to lead a normal life. The normal life expectancy in such cases is as high as 42-48 years.
Research and studies on gene therapies for sickle cell anemia are going on in different parts of the world.
Prevention
Sickle cell anemia prevention can be done through the following:
- Genetic screening
- Testing for sickle cells in babies
- Hemoglobin electrophoresis and simple peripheral smear examination
- Routine checkups in high-risk groups
