Sickle Cell Anemia – Types, Causes, Symptoms and Treatment

Updated on March 5, 2018

606

Sickle cell anemia or SS hemoglobinopathy is an inherited form of anemia; it is a blood disorder that is characterized by fewer amounts of healthy red blood cells, this makes it difficult for adequate oxygen to be transported throughout the body.

The red blood cells of a healthy individual are round and flexible; but in the case of sickle cell anemia, individuals with this condition have a deformed structure of red blood cells, they are rigid, sticky, prone to rupture, fragile and shaped like sickles or crescent moons.

Sickle cell disease is one of the most common inherited blood disorders; it is common among Africans, Indians, and people from Saudi Arabia and the Mediterranean; many people around the world are affected by this inherited form of blood anemia.

These deformed red blood cells can get stuck in the blood vessels because their abnormal shape; this will slow or block the flow of blood and prevents oxygen from reaching all parts of the body.

Currently there is no cure for sickle cell anemia but there are treatments that are used to relieve pain and prevent health complications associated with the disease. Treatment is also directed primarily towards managing the individual features of the illness as they occur. There are also therapies employed to prevent the red blood cells from sticking together.

Types of sickle cell disease

There are four main types of sickle cell anemia and they are caused by different mutations in the genes that are responsible for creating hemoglobin; the four main types of sickle cell disease are:

Hemoglobin SS disease: This is the most common type of sickle cell disease; it occurs when an individual inherit two copies of the hemoglobin S gene from both parents. This forms the hemoglobin known as SS; this is the most severe form of sickle cell disease. Individuals with this form of sickle cell disease experience the worst symptoms at a higher rate.
Hemoglobin SC disease: This is the second most common type of sickle cell disease; it occurs when an individual inherits the hemoglobin C gene from one parent and the hemoglobin S gene from the other parents. Individuals with this form of sickle cell disease have symptoms similar to those with hemoglobin SS disorder; only that the anemia experienced is less severe.
Hemoglobin SB+ (beta) thalassemia: This blood disorder affects the production of the beta globin gene; the size of the red blood cell is reduced due to less production of the beta protein. The symptoms of this blood disorder are not as severe as the two above.

Hemoglobin SB 0 (Beta-zero) thalassemia: This is the fourth type of sickle cell anemia; it also involves the beta globin gene and has symptoms similar to that of hemoglobin SS anemia. The symptoms of this blood disorder are sometimes more severe and it is usually associated with a poorer prognosis.

Other types of sickle cell diseases are Hemoglobin SD, Hemoglobin SE and Hemoglobin SO; they are usually very rare and don’t have severe symptoms.

Causes and risk factors of sickle cell disease

This is an inherited mutation that occurs when one inherits two sickle cell genes from his/her parent. Sickle cell anemia requires the inheritance of two sickle genes while sickle cell trait requires the inheritance of one sickle cell gene and it is rarely dangerous.

Mutation in the gene is responsible for this health complication; this mutation affects the gene that tells the body to make red blood cells that are rich in hemoglobin. Hemoglobin is a compound that forms part of the red blood cells; it is rich in iron and it is responsible for the red colour of the blood.

This compound makes it possible for red blood cells to transport oxygen from the lungs to all parts of the body. In the case of sickle cell anemia; the abnormal formation of hemoglobin affects the shape and functions of the red blood cells.

For someone to be born with this gene; the both parents must’ carry a sickle cell gene or both must have the sickle cell disease. People with the sickle cell gene/trait are known as “carriers”, they are those with the genotype AS and SS are those with sickle cell anemia; that is why marriage is discouraged between couples that have the same type of any of this genotype.

Couples with the AS genotype each are not supposed to get married; likewise those with SS, they are not allowed to marry each other and AS and SS are not allowed to marry each other either because it leads to sickle cell disease in their children.

SS, SC, AC and CC are not supposed to get married to someone with the same genotype because they are carriers of a recessive disorder which is a very serious medical condition. They should only marry those with the AA genotype. People with this sickle cell trait or disease AS and SS can marry those with the Genotype AA.

Symptoms of Sickle Cell Anemia

Virtually all the major symptoms of sickle cell disease are the direct result of the blockage of blood vessels by the abnormally shaped red blood cells and they include:

Anemia: The deformed red blood cells break apart easily and die; this makes red blood cells scarce in the body. A normal red blood cell lasts for 120 days before being destroyed and replaced but in sickle cell disease, the deformed erythrocytes lasts for 10 to 20 days; this leads to shortage of red blood cells thereby making it difficult for the body to get enough oxygen. This condition leads to anemia and it comes along with lack of energy and fatigue.
Delayed growth: The main function of the red blood cells is to provide the body with nutrients and oxygen which are necessary for growth and when this is lacking normal growth and development is affected. A shortage of red blood cells also slows the growth and development in infants and children and it delays puberty in teenagers.
Episodes of pain: Sickle cell disease cause periodic episodes of pain; this is commonly called crisis and is a major symptom of this health condition. This pain occurs when the sickle shaped red blood cells block tiny blood vessels and obstructs the flow of blood to the chest, abdomen and joints; it can even lead to bone pain, the intensity of the pain can vary and it can lasts for a few hours to a few weeks. Some sicklers have only a few pain episodes while others have a dozen or more in a year and in severe cases, hospitalization is needed.

Vision problems: Obstruction of blood flow to the eyes by these sickle shaped red blood cells; damage to the retina occurs when tiny blood vessels that supplies the eyes with blood becomes plugged with sickle cells and this leads to vision problems because thel2 retina is the portion of the eyes that processes visual images.
Painful swellings of the hands and feet: This pain and swelling is caused by the obstruction of tiny blood vessels by sickle shaped red blood cells; this blocks the flow of blood to the hands and feet.
Frequent infections: This medical condition can overwork and damage the spleen which is an organ that fights infection; the red blood cells are also destroyed in the spleen. This weakens or prevents the spleen from functioning effectively leading to frequent occurrence of infection; antibiotics and vaccinations are usually given to children with sickle cell anemia to prevent life threatening infections like pneumonia.

Health complications that can result from sickle cell anemia

Sickle cell disease can lead to a host of medical problems and the common ones are:

Stroke: A stroke can occur when the sickle shaped red blood cells block the flow of blood to the brain; stroke is a medical condition characterized by paralysis, signs and symptoms include numbness or weakness of the arms and legs, difficulties in speech which can be sudden and loss of consciousness. Seek medical attention if you notice any of these symptoms because stroke can be fatal.
Heart and lung injury: Children with sickle cell anemia are prone to infection of the lungs (pneumonia); inadequate supply of blood to the lung can also result in tissue death, this can lead to acute chest syndrome, scarring of the lungs and pulmonary infarcts.

Children with sickle cell disease have enlarged heart; rapid heartbeat and murmurs are also common, the heart muscle is injured by infarcts and deposition of iron from the ruptured red blood cells. Overtime this weakens the heart muscle, the heart pumps blood more and more poorly.

Liver congestion: The liver is actively involved in the removal of sickle red blood cells from the circulation of people with sickle cell anemia; it can lead to liver congestion and enlargement. The liver becomes congested with red blood cells; this can result in impaired liver function, jaundice, gallstone and inflammation of the gallbladder. All these problems can result in nausea and vomiting.
Organ damage: This deadly condition can block the flow of blood to vital organs of the body (like the brain, spleen, liver, kidneys and heart) by obstructing the blood vessels with sickle cells; this deprives the organs of blood, nutrients and oxygen. In sickle cell disease, the blood itself is low on oxygen and when organs are starved of oxygen rich blood, they become damaged and in severe cases organ failure can occur.

Splenic sequestration: This is the sudden pooling of blood in the spleen; red blood cells are destroyed in the spleen, in sickle cell disease, there is an accelerated destruction of red blood cells which leads to this condition.

Sudden pooling of blood in the spleen can result in severe anemia and death; sometimes the patients can develop shock and lose consciousness, transfusion of blood and fluid is usually carried out in this condition. The spleen is normally enlarged in children with sickle cell anemia; this is caused by splenic sequestration and impaired supply of blood to the spleen. The spleen gradually shrinks with scaring.

Acute chest pain: Sickle cell hemoglobinopathy can cause chest pain which is also known as sickle chest syndrome, it is followed by fever and difficulty in breathing; it can be caused by a lung infection or by sickle cells blocking the blood vessels in the lungs. This condition might require emergency medical treatment with antibiotics and other medications or treatment. The symptoms are severe chest pain, cough, fever, sputum production, shortness of breath and low levels of blood oxygen.

Aseptic Necrosis and Bone infarcts: Inadequate blood circulation can cause the death of bone tissues known as bone infarction and aseptic necrosis also known as osteonecrosis or localized bone death can occur due to inadequate supply of oxygen to the bones. Any bone can be affected by these conditions but the most affected bones are bones of the thighs, legs and arms; this can result in permanent damage of the hip bone thereby deforming it, it can also lead to deformed shoulders and knees. Pains. Tenderness and disability are frequent with osteonecrosis; it can permanently damage large joints and in severe damage, total joint replacement maybe needed to restore function.
Gallstones: The frequent breakdown of red blood cells in the bodies of sicklers can lead to the production of a substance called bilirubin; this substance can accumulate in the body and this will eventually lead to the formation of gallstones.
Blindness: The deformed red blood cells can block tiny blood vessels that supplies blood to the eyes; overtime this can damage the retina which processes visual images and this will lead to blindness. This blindness is usually permanent but it can be prevented if bleeding into the eyes and retinal detachment are detected early and treated with laser treatment.

Pulmonary hypertension: Sickle cell disease can lead to the development of high blood pressure in the lungs; it is more common in adults than children, it can be fatal and fatigue and shortness of breath are the common symptoms.
Priapism: This condition happens in men with sickle cell anemia; it is characterized by a painful and long-standing erection, this is caused by an obstruction in the flow of blood to the penis by the sickle cells, this can damage the penis and lead to impotence.
Leg ulcers: Sickle cell disease can cause open sores on the legs; the legs of sickle cell patients are susceptible to skin breakdown and ulceration, because of the stagnant flow of blood to the area. This can promote skin damage and ulceration. This condition is common in adults with sickle cell anemia; it usually forms over the ankles and sides of the lower legs, the ulcers can be severe and even encircle the whole legs. This infection can be chronic and resistant to infection; oral antibiotics and topical creams are often used.

How to Cope with Sickle Cell Anemia

Eat healthy foods: This will help the immune system and the body to overcome the symptoms and crisis of sickle cell; it will reduce the rate of anemia and fatigue experienced by sicklers. It has more benefits; so healthy foods should be taken regularly; avoid junks and processed foods, food additives and sweeteners.

Eat foods rich in folate daily: The bone marrow needs folic acid and other vitamins to make new red blood cells; the diet should involve whole foods, whole grains, herbs and colourful fruits and vegetables.

Omega-3 fatty acids: Eat rich sources of omega-3 fatty acids; this vital nutrient helps to reduce the episodes of severe pain (crisis). Rich sources of these healthy fatty acids are salmon, tuna, mackerel and fish oil supplements.

Quality hydration: Drink lots of clean water to reduce dehydration which can increase the rate of crisis in people with sickle cell anemia. Drink more than 8 glasses of water a day; take more in hot weather and when you exercise.

Increase your intake of Zinc: This vital mineral helps in preventing cell damage; it also speeds up the healing of wound and this can help in the case of leg ulcers experienced in Sickle cell anemia.

Avoid extreme temperatures: Exposing yourself to extreme heat and cold can reduce the risk and frequencies of crises.

Avoid stress and always rest properly: Stress and lack of proper rest and sleep can increase the symptoms of sickle cell disease; it can increase the frequency of crisis and anemia and increase the severity of the symptoms.

Engage in mild exercise regularly: This shouldn’t be overdone so that it will not increase the severity of fatigue and weakness experienced by sicklers.

Warm baths: Soaking in warm water can help mild to moderate sickle cell crisis; it is soothing and helps to relieve the symptoms, the warmth of the water helps to dilate the blood vessels and this will help greatly in relieving the symptoms. Make sure the water is not too hot or too cold so that it will not trigger another crisis as extreme temperatures are not good for sicklers.

Heat pads or warm moist towels: Heat pads can be bought from a pharmacy; it is applied on the painful area to relieve the pain. In the absence of heat pad; a clean towel can be dipped in warm water, squeezed lightly and applied to the painful area. This will help to relieve the symptoms of crisis.

Massage: A gentle massage can be soothing and comforting when one is in pain; it should be done in a warm environment. Baby oil or natural lotions can be used on the painful area to help relax blood vessels, muscles and increase the flow of blood.

Essential oils: Essential oils can greatly relieve pains without any side effects; they also improve relaxation and the functions of the immune systems. Peppermint oil can be used in massage and also applied all over the skin to reduce sore muscles and joint pains.

Lavender oil can also be used, it is effective in reducing inflammation and helps one relax and mange stress. Citrus essential oil or grapefruit oil can greatly reduce the symptoms of fatigue. They should be used topically so that they won’t interfere with medications and cause another crisis.

You can try Ayurveda treatment: Ayurvedic treatment is the traditional healing system of the Indians; they have various herbs which are very helpful in treating and managing the symptoms of anemia.
You should try to see a doctor immediately if you notice any of these symptoms: