Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person’s parents. The most common type is known as sickle cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin (hemoglobin in American English) found in red blood cells.
This leads to a rigid, sickle-like shape under certain circumstances, such as low oxygen levels or stress. Problems in sickle cell disease typically begin around five to six months of age. A number of health problems may develop, such as attacks of pain (“sickle cell crisis”), anemia, swelling in the hands and feet, bacterial infections, and stroke.
The main cause of sickle cell disease is a problem with hemoglobin — a type of protein in red blood cells that carries oxygen to the tissues of the body. In sickle cell disease, the body makes a different kind of hemoglobin, called hemoglobin S (HbS), instead of the normal hemoglobin A (HbA).
When there’s not enough oxygen in the body, hemoglobin S causes the red blood cells to become misshapen and rigid. The sickle-shaped cells can stick to the walls of the blood vessels, causing blockages that can slow or stop the flow of oxygen-rich blood to the body’s tissues and organs. This lack of adequate blood flow can result in a number of problems, including severe pain, organ damage, and increased risk of stroke.
Causes of Sickle cell disease
Sickle cell disease is an inherited genetic condition that affects the body’s red blood cells. The causes of sickle cell disease include:
1. Genetic Inheritance: The primary cause of sickle cell disease is a mutation in the HBB gene, which provides instructions for making a protein called beta-globin. Beta-globin is an essential component of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. This mutation is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell (one from each parent) have the mutation for a person to develop the disease.
2. Hemoglobin Structure Abnormality: People with sickle cell disease produce a form of hemoglobin (hemoglobin S or HbS) that’s different from the normal hemoglobin (hemoglobin A or HbA). Hemoglobin S changes shape after it releases its oxygen load, causing red blood cells to become rigid and adopt a sickle (crescent) shape.
3. Abnormal Shape of Red Blood Cells: The abnormal shape of red blood cells in people with sickle cell disease means they can’t move easily through blood vessels, which can block blood flow causing pain and potentially leading to organ damage or stroke.
It’s vital to remember that sickle cell disease is not caused by lifestyle factors or environmental influences. It is entirely a hereditary condition passed on from parents to their children. In order for a child to inherit the disease, both parents must be carriers of the sickle cell trait. This means they have one normal hemoglobin A gene and one abnormal hemoglobin S gene.
Risk Factors of Sickle cell disease
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person’s parents. The primary risk factor for Sickle Cell Disease (SCD) is having parents who both carry a sickle cell trait. If each parent carries one copy of the mutated gene, there’s a 25% chance their child will have sickle cell disease.
Here are some additional factors that might increase the risk or severity of complications related to sickle cell disease:
1. Ethnicity: Individuals of African, Middle Eastern, Indian, Mediterranean, and Hispanic descent have a higher risk of having the sickle cell trait.
2. Homozygous vs heterozygous: Those with two copies of the Sickle Cell gene (homozygous) are at a higher risk for more severe symptoms than those with one copy (heterozygous or ‘Sickle Cell Trait’).
3. Infections: People with SCD are at increased risk for severe infections due to functional asplenia, a condition where the spleen does not work properly or at all.
4. Environmental conditions: Dehydration, high altitude, and extreme temperatures can precipitate a sickle cell crisis.
5. Age: Infants and young children are at risk for life-threatening infections, while Adults are more prone to chronic complications.
6. Other health conditions: Individuals with SCD are also more likely to develop other health challenges such as stroke, acute chest syndrome (a condition linked to lung-related complications), pulmonary hypertension, and organ damage. Closely related to this is iron overload, which can result from the frequent blood transfusions often necessary to treat SCD.
It’s important to note that while these factors can increase the risk of the disease or its complications, they don’t guarantee that an individual will definitely get the disease or have a severe form.
Signs and Symptoms of Sickle cell disease
Sickle cell disease is an inherited disorder that affects red blood cells. It leads to an abnormality in the oxygen-carrying protein, hemoglobin, found in these cells. This causes the red blood cells to become rigid and shaped like a “C” or sickle, which can impede their ability to move smoothly through blood vessels.
The signs and symptoms of sickle cell disease can vary and change over time and they can begin to appear in early childhood. They may include:
1. Anemia: Sickle cells break apart easily and die, causing a persistent shortage of red blood cells leading to anemia. This often contributes to fatigue or tiredness.
2. Episodes of pain (Pain crises): When sickle-shaped cells block blood flow through tiny blood vessels to the chest, abdomen, and joints, it can result in periodic episodes of pain. Pain can also occur in the bones.
3. Frequent infections: The disease can cause damage to the spleen, an organ that fights infection, causing a person with sickle cell to be more vulnerable to infections.
4. Swelling in hands and feet: The blockage of blood flow can cause swelling in the hands and feet.
5. Vision problems: Tiny blood vessels that supply your eyes may become plugged with sickle cells leading to vision problems.
6. Delayed growth or puberty: Due an insufficient supply of nutrients necessary for growth, children may show growth retardation. Puberty may also be delayed in teenagers.
7. Jaundice: The rapid breakdown of the sickle cells often leads to jaundice, causing your skin and the whites of your eyes to look yellow.
It’s also worth noting that the intensity of these symptoms varies from person to person. Some people have only mild symptoms or less frequent sickle cell pain episodes, while others can experience more severe complications. If you or someone else shows any of these symptoms, consider seeking medical advice.
Diagnosis Sickle cell disease
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person’s parents. The most common type is known as sickle cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.
In normal circumstances, red blood cells are round and flexible so they can travel smoothly throughout the blood vessels. However, people with sickle cell disease have red blood cells that become hard, sticky and shaped like a crescent or sickle. This can block the flow of blood in the vessels, leading to pain and potential organ damage.
This mutation in the haemoglobin gene leads to the production of an abnormal type of haemoglobin called “haemoglobin S” instead of the normal haemoglobin, which is “haemoglobin A”. When haemoglobin S gives up its oxygen to the tissues, it sticks together to form long, rigid rods, which make the red cells stiff and contorted. These sickle cells are unable to flex and deform in order to pass through capillaries, leading to blockage with resultant pain, tissue damage and sometimes stroke.
Common symptoms include painful episodes called “sickle cell crises”, anemia, swelling in the hands and feet, frequent infections, and delayed growth in infants and children.
Treatment options commonly involve medications to manage pain, blood transfusions, plenty of fluids, and in some cases hematopoietic stem cell transplant. However, it’s a lifelong condition that requires regular medical checks and support to manage the symptoms and any potential complications.
Treatment of Sickle cell disease
Sickle cell disease is a lifelong disease and there’s no universal cure yet, but treatments can relieve pain and prevent further complications. The treatment generally focuses on managing the symptoms and limiting complications, and may include:
1. Medications: This includes drugs known as hydroxyurea, which can reduce the number of pain crises and reduce the need for blood transfusions. Analgesics to manage pain during a crisis can also be part of the treatment plan. As for children, penicillin might be prescribed from about 2 month old up until at least 5 years of age to prevent infections.
2. Blood transfusions: Regular blood transfusions increase the number of normal red blood cells in circulation, helping to relieve anemia. In some cases, a long-term transfusion program may be suggested to prevent stroke in children with sickle cell anemia.
3. Stem cell transplant: This is currently the only potential cure for some patients with sickle cell disease. It involves a donation of healthy stem cells from a matching donor, often a sibling with matched tissue type, being inserted into the patient’s bone marrow to stimulate the growth of new, healthy blood cells.
4. Supplements: Folic acid supplements can help patients produce more red blood cells.
5. Other therapies: Often includes the use of oxygen, pain management, and intravenous fluids to reduce pain and prevent complications.
6. Vaccinations: Because sickle cell can leave the body more prone to infections, vaccinations against certain diseases (like pneumonia and influenza) are often prescribed.
It’s also worth noting that lifestyle adaptations (like maintaining a healthy diet, drinking plenty of water, and regular physical activity) can help manage some of the symptoms. Please consult your healthcare professional for personalized medical advice.
Medications commonly used for Sickle cell disease
Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. Medications are commonly used to help manage the symptoms and complications of this disease. Below are a few key ones:
1. Hydroxyurea (Hydrea, Droxia): This is an oral medication that can help reduce certain symptoms, including painful crises and the need for blood transfusions. It works by stimulating the production of fetal hemoglobin, which can help prevent the formation of sickle cells.
2. L-glutamine oral powder (Endari): This is used to reduce the acute complications of sickle cell disease in adults and pediatric patients 5 years of age and older.
3. Crizanlizumab (Adakveo): An infusion that reduces how often certain episodes occur in people with sickle cell disease.
4. Voxelotor (Oxbryta): A daily pill that makes sickle cells less likely to stick together and form clumps, which can block blood flow.
5. Pain Relievers: Over-the-counter or prescription medications may be used to relieve the pain of sickle cell crises.
6. Antibiotics: Children with sickle cell anemia may begin taking the antibiotic penicillin when they’re about 2 months old and continue until they’re at least 5 years old because they’re more susceptible to infections, especially those that can lead to meningitis.
7. Blood Transfusions: In severe cases, blood transfusions are used to increase the number of normal red blood cells in circulation and can help to relieve symptoms.
Remember, each individual’s treatment plan for sickle cell disease is unique and dependent on their specific symptoms, frequency of sickle cell crises, and overall health. These medications should only be taken under direct guidance from a healthcare provider.
Prevention of Sickle cell disease
Currently, there is no definitive way to prevent sickle cell disease because it is a genetic condition that is passed down from parents to their children. You cannot change your genes, therefore preventing sickle cell disease can be challenging. However, there are ways you can potentially prevent passing the disease to your children.
1. Genetic Counseling: If sickle cell disease runs in your family, or if you or your partner is a carrier of the sickle cell trait, consider getting a genetic counselor. They can help you understand the risks and options for your future children.
2. Prenatal Testing: If you are pregnant or planning for children and are confirmed to be carriers of the sickle cell trait, you can opt for prenatal screening to determine whether the embryo has the disease. In case the fetus is found to be affected, parents can make an informed decision.
3. In vitro Fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD): This is a procedure that can be done in the early stages of IVF. The doctor collects eggs and sperm, then fertilizes the egg in a laboratory. The resulting embryos can be tested for genetic disorders like sickle cell before transferring them to the uterus.
4. Bone marrow or stem cell transplant: Though this is not a prevention measure, it is currently the only potential cure for sickle cell disease. It involves replacing diseased bone marrow with healthy bone marrow from a compatible donor.
5. Lifestyle Measures: Living a healthy lifestyle can help manage symptoms and prevent complications related to sickle cell disease. This doesn’t prevent the condition, but it does help in managing the illness effectively and reducing complications.
It is always advisable to discuss with a healthcare provider or genetic counselor if you have concerns about passing on sickle cell disease to your children.
FAQ’s about Sickle cell disease
1. What is sickle cell disease?
Sickle cell disease is a group of disorders that cause red blood cells to become misshaped and break down. Instead of being round and flexible, the cells are shaped like sickles or crescent moons.
2. What causes sickle cell disease?
Sickle cell disease is caused by a mutation in the gene that tells your body to make the red, iron-rich compound that gives blood its red color (hemoglobin). It is inherited health disorder and needs the gene from both parents to be passed on.
3. What are the symptoms of sickle cell disease?
Symptoms can include anemia (shortage of red blood cells), episodes of pain (sickle cell crises), swelling in hands and feet, frequent infections, delayed growth, and vision problems.
4. Who is at risk for sickle cell disease?
Sickle cell disease is more common in certain ethnic groups, including people of African descent, including African-Americans (among whom 1 in 13 is a carrier), Hispanic-Americans from Central and South America, and people of Middle Eastern, Asian, Indian, and Mediterranean descent.
5. How is sickle cell disease diagnosed?
Sickle cell disease can be diagnosed in an unborn baby by sampling some of the fluid surrounding the baby in the mother’s womb (amniocentesis) or a tissue sample from the placenta (chorionic villus sampling). After birth, a blood test can diagnose the disease.
6. How is sickle cell disease treated?
Treatment typically includes medications to reduce pain and prevent complications, and blood transfusions, along with a healthy diet. In some severe cases, a bone marrow transplant might be performed.
7. Can sickle cell disease be prevented?
Sickle cell disease cannot be prevented because it’s an inherited disease. However, with proper treatment and care, most people with the disease can maintain a high quality of life.
8. Can people with sickle cell disease live a normal life?
The disease can reduce life expectancy, however, with proper care and regular medical checkups, many people with the disease can lead near normal lives.
Kindly seek a medical professional for more detailed, personalized, and accurate information.
Useful links
Sickle cell disease is a group of disorders that affect hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
Below are some useful journal links about sickle cell disease:
Please note that not all articles might be available for free; some might require journal subscription or individual article purchase. Remember to follow any guidelines required by the host site or journal when referencing their material.
Complications of Sickle cell disease
Sickle cell disease, an inherited blood disorder, is characterized by the presence of abnormal hemoglobin in red blood cells. Hemoglobin is the molecule in red blood cells that delivers oxygen to cells throughout the body. In sickle cell disease, the abnormally shaped red blood cells can cause several complications, such as:
1. Anemia: Because sickle cells don’t last as long as normal red blood cells, they cause a shortage of red blood cells (anemia), which can lead to fatigue.
2. Pain Episodes: Sickle cells can block small blood vessels in the limbs and abdomen, causing severe and chronic bouts of pain, often requiring hospitalization.
3. Hand-Foot Syndrome: In toddlers and babies, the small blood vessels in the hands or feet can get blocked, causing pain, swelling, and fever.
4. Frequent infections: Sickle cells can damage the spleen, an organ that fights infection, making people with sickle cell more susceptible to infections. Infants and young children, in particular, are more susceptible to life-threatening infections.
5. Acute Chest Syndrome: This is a life-threatening complication characterized by chest pain, fever, and difficulty in breathing. It can be caused by infection or by sickle cells blocking blood vessels in the lungs.
6. Stroke: Sickle cells can block blood flow to the brain, causing a stroke. Signs can include seizures, weakness or numbness of arms and legs, sudden speech difficulties, and loss of consciousness.
7. Vision Loss: Sickle cells can damage retina blood vessels, leading to vision problems and potentially even blindness.
8. Organ Damage: Because sickle cells block the oxygen flow to organs, over time this can cause organ damage, particularly to the liver, kidney, heart, and lungs.
9. Complications during Pregnancy: Pregnant women with sickle cell are at a higher risk of preterm labor, having a low-weight baby, and complications that can lead to death.
10. Psychosocial Complications: Dealing with the chronic pain and frequent medical appointments associated with sickle cell disease can lead to depression, anxiety, and social isolation.
It’s crucial that individuals with sickle cell disease receive regular check-ups to manage these complications. The treatments vary depending on the severity of the symptoms and could range from pain management to blood transfusions, or in severe cases, a bone marrow transplant.
Home remedies of Sickle cell disease
While there is no known home remedy to cure sickle cell disease, which is a severe and lifelong congenital blood condition, there are several strategies that can help manage symptoms and improve the quality of life. However, these should be complemented with conventional medical management:
1. Hydration: Drink plenty of water and fluids as dehydration can cause the body to produce more sickle cells.
2. Balanced Diet: A nutritious diet rich in fruits, vegetables, lean proteins, and whole grains can improve overall health. Folic acid supplements may be considered due to the increased rate of red blood cell breakdown.
3. Pain Management: Warm baths or a heating pad can help soothe muscle or bone pain that often accompanies this condition.
4. Regular Exercise: Light exercises such as walking or yoga can promote overall wellness, but aggressive exercises can cause a sickle cell crisis.
5. Rest: Ensure enough sleep and rest, and try to avoid overexertion as fatigue and stress can trigger a sickle cell crisis.
6. Avoid Extreme Temperatures: Both extreme heat and cold can trigger a sickle cell crisis. Try to stay in a moderate temperature.
7. Emotional Support: Emotional counseling or joining support groups can be beneficial to combat psychological challenges like depression or anxiety.
It’s crucial to have regular check-ups and follow doctor’s instructions when suffering from sickle cell disease. This disease should always be medically supervised as complications can be severe or even life-threatening. Always contact your healthcare professional in case of severe or prolonged symptoms.
Stella Richards