Sickle Cell Anemia is a genetic disorder and is a part of Sickle Cell Diseases.
This is an inherited red blood cells disorder, in which the healthy red blood cells are not able to carry oxygen throughout your body.
The flexible red blood cells move easily around the body, however, in Sickle Cell Anemia. The red blood is like sickle or crescent moons.
These rigid, sticky cells can get stuck in small blood vessels which can slow down or block the flow of blood and oxygen to the parts of the body.
Sickle Cell Disease SCD is an autosomal recessive condition, in which two copies of the gene are present in your body.
However, if you have only one copy of a gene, then you are said to have a sickle cell trait.
Signs and Symptoms of Sickle Cell Anemia
Usually, around 5 months of age, the signs, and symptoms of Sickle Cell Anemia appear, however they may vary from person to person and change over time. These include:
Anemia: Sickle cells break apart easily and die, leaving your bloodstream which few red blood cells.
Red blood cells normally live for about 120 days, before there is a replacement, however, sickle cells die in 10 to 20 days, thereby, leaving a shortage of red blood cells.
Without a sufficient amount of RBCs, your body is not able to get enough oxygen, causing fatigue.
Episodes of Pain: Pain Cries is a major sign and symptom.
Pain develops in your body when sickle-shaped red blood cells blood blow flow through tiny vessels to your chest, abdomen, and joints, Pain can also occur in your bone.
Moreover, the pain varies in intensity and can last for a few hours to a few weeks. Some people might have only episodes of pain, others have a dozen or more in a year.
It is important to note that severe pain needs hospitalization.
Some adults and teenagers with sickle cell anemia also have chronic pain which can result from bone and joint, ulcers, and other causes.
Swelling: In some cases, it can cause swelling in hands and feet due to sickle-shaped red blood cells blocking the blood flow.
Infections: It can damage your spleen, leaving you more vulnerable to infections.
Normally, doctors give vaccinations and antibiotics to children and infants to prevent potentially life-threatening infections like Pneumonia.
Delayed Growth: A shortage of healthy red blood cells can slow the growth process in infants and children and delay puberty in teenagers.
Vision Problems: Blood vessels that supply blood to your eyes can become plugged with sickle cells.
This can damage the retina that processes the visual images and leads to vision problems.
Causes of Sickle Cell Anemia
The causes of sickle cell anemia are due to a mutation in the gene that tells your body to make an iron-rich compound that makes blood red and enables red blood cells to carry oxygen from your lungs throughout your body.
In this condition, the abnormal hemoglobin causes red blood cells to become rigid, sticky, and misshapen.
However, it is important to note that both mother and father pass this defective gene to the child in order to be affected by it.
If only one of the parents passes this gene, the child will have sickle cell traits. With one normal hemoglobin gene and one defective, people with sickle cell traits make both normal hemoglobin and sickle cell hemoglobin.
They generally do not show any signs and symptoms, however, their blood might contain sickle cell.
There are the carriers of the diseases, however, which means they can pass this gene to their children.
What are the Risk Factors?
For a child to be born with Sickle Cell Anemia, both parents must carry the gene. A blood test, hemoglobin electrophoresis can help determine the type you might carry.
In the United States, This disease mostly affects black people. Moreover, the following people from regions of the world that have endemic malaria are more likely to be carriers of this gene.
This includes people from:
- The Mediterranean
- Saudia Arabia
Diagnosis of Sickle Cell Anemia
In most cases, a blood test can check for defective genes of sickle cells in your body.
Medical History: A detailed medical history can help doctors and health care professionals to diagnose this disease.
Patients may have severe pain in the bones, anemia, painful enlargement of the spleen, growth problems, respiratory infections, ulcers on the legs, and heart problems.
Blood Tests: In adults, for a blood test, blood is drawn from the veins, however for children and babies, the blood sample is collected from the finger or heel.
This sample is then screened for the defective hemoglobin in the blood.
Blood counts can reveal abnormal Hb levels in the range of 6-8 grams per deciliter.
Hb Electrophoresis: This test is necessary to confirm the diagnosis of Sickle Cell Disease. It measures different types of hemoglobin in the bloodstream.
The treatment options or medical care for Sickle Cell Anemia aims at avoiding pain episodes or pain crises, relieving signs and symptoms, and preventing complications.
Treatment includes medications and blood transfusion.
A Stem Cell Transplant for some children and teenagers might cure this disease.
Medications: The following medications can help relieve pain and manage other signs and symptoms. These are:
- Hydroxyurea: It reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalization. However, it can increase the risk of infections. <oreover, pregnant women should avoid this medicine.
- L-glutamine Oral Powder: This is an FDA-approved drug, and helps to reduce pain cries.
- Crizanlizumab: Another FDA-approved drug, given through veins. It helps to reduce the frequency of pain crises. Side effects include nausea, joint pain, back pain, and fever.
- Pain relievers: Your doctor or health care professional may prescribe narcotics to help relieve pain during sickle cell pain crises.
- Voxelotor: This is also another FDA-approved drug. Side effects include headache, nausea, diarrhea, fatigue, rash, and fever.
Prevention of Infections
Children between the age of 2 months to 5 years receive penicillin. Doing so helps prevents infections like pneumonia, which can be life-threatening to children with this disease.
However, adults may need to take penicillin throughout their lives, in case they have surgery for the removal of the spleen.
Moreover, childhood vaccinations are important and even more important in children with sickle cell anemia to prevent severe infections.
Consult your doctor for childhood vaccinations as they can help prevent conditions like pneumonia and meningitis.
Surgical and Other Procedures
Surgical and Other procedures include:
Blood Transfusions: In RBC transfusion, red blood cells are removed from the supply of donated blood, then given through a vein to a person with sickle cell anemia.
This increases the number of normal red blood cells which can help reduce the signs and symptoms and other complications.
The side effects may include immune response to the donor blood, infections, and excess iron build-up in your body.
Stem Cell Transplant: It is also known as bone marrow transplant, which involves replacing bone marrow affected by sickle cell anemia with healthy ones.
This procedure involves taking bone marrow from a sibling or close relative who does not have this disease.
Doctors recommend this procedure only for children or people who show severe signs and symptoms of this disease as this procedure has different risks associated.
What are the Complications?
Sickle Cell Anemia can lead to a host of complications, including:
Stoke: It can block blood flow to an area of your brain and cause stroke and seizures. Signs of a stroke include seizures, numbness or weakness in your arms and legs, sudden speech difficulties, and loss of consciousness.
Seek medical advice and treatment immediately if you observe these signs and symptoms in yourself or your child.
Acute Chest Syndrome: People with this disease can develop high blood pressure n their lungs. This affects adults usually.
Shortness of breath and fatigue are common symptoms.
Organ Damage: The blood flow is affected due to this disease and can affect different organs of oxygen and blood.
Blindness: It can blood tiny blood vessels that supply blood to the eyes. Over time, it can damage your eye and lead to blindness.
Leg Ulcers: It can cause open sores on your legs.
Gallstones: The breakdown of RBCs produces bilirubin. A high level of Bilirubin can lead to gallstones.
Priapism: In this condition, men with this disease have long and painful erections, moreover, it can block the blood vessels in the penis that can lead to impotence over time.
Pregnancy Complications: It can increase the risk of high blood pressure and blood clots during pregnancy.
It can also increase the risk of miscarriage, premature birth, beta thalassemia, pulmonary hypertension, and having low birth weight babies.
Is it Preventable?
If you carry a sickle cell trait, seeing a genetic counselor can help you better understand your risk of having a child with Sickle Cell Anemia.
They can also explain the possible treatments, preventive measures, and reproductive options so that the chances of passing the defective gene to your child decrease.
Certain preventive measures at home can help you with sickle cell symptoms. These are:
- Using a heating pad to relieve pain
- Taking folic acid supplements as recommended by your doctor
- Eating fruits and vegetables, whole wheat grains
- Drink more water to reduce the chances of Sickle Cell Cries
- Exercise to reduce stress and pain cries
- In case you have an infection, seek medical treatment immediately
The prognosis of this disease varies and some patients can have frequent pain cries than others. Others can only have mild to rare pain cries.
Sickle cell anemia is an inherited condition. If you or your partner have this disease, consulting a genetic counselor can help you understand the chances of passing the sickle cell gene to your baby, possible treatment options, preventive measures, and reproductive options, as these can decrease the chances of passing this gene to your child.