Sickle cell disease: Causes, Symptoms, Treatment and Cost

An hereditary blood illness known as sickle cell disease is brought on by a genetic change in the haemoglobin molecule. Due to this mutation, red blood cells acquire an irregular form that might induce blockages as these cells pass through tiny blood channels.

There are several types of sickle cell disease, including:

• HbSS (Haemoglobin SS): This type of sickle cell disease is caused by a mutation in both alleles, or versions of a gene, which results in the production of abnormal haemoglobin called haemoglobin S. This is the most common type of sickle cell disease and it can cause severe complications, including anaemia and increased risk for infection.
• HbSC (Haemoglobin SC): This type of sickle cell disease is caused by a mutation in one allele that produces haemoglobin S, combined with another mutation in another allele that produces haemoglobin C. People who have this type usually have milder symptoms and fewer complications than those with HbSS, however they may still experience some symptoms related to anaemia and increased risk for infections.
• HbS Beta-Thalassemia: This type of sickle cell disease occurs when someone has one copy of the normal haemoglobin gene and one copy of an abnormal haemoglobin gene (haemoglobin S) combined with at least one copy of a mutated beta-thalassemia gene. People who have this type usually experience milder symptoms than those with HbSS but may still experience some complications from anaemia or other related conditions.
• Sickle Cell/Haemoglobin C Disease: This type occurs when someone has one copy each of both abnormal genes (hemoglobins S and C). The symptoms associated with this type are usually milder than those seen with HbSS but can still be quite severe in some cases.

• Genetic Mutation: The primary cause of sickle cell disease is a genetic mutation in the haemoglobin gene, which affects the shape of red blood cells and makes them unable to carry oxygen efficiently throughout the body.
• Inheritance: A genetic change in the haemoglobin molecule is the root cause of the hereditary blood condition sickle cell disease. Red blood cells with this mutation have irregular shapes, and as they move through tiny blood channels, they might get caught and obstruct circulation.
• Mutated Haemoglobin Gene: The mutated haemoglobin gene causes red blood cells to become sickle-shaped and hard, preventing them from carrying oxygen efficiently throughout the body. This leads to symptoms such as fatigue, pain, and anaemia.
• Abnormal Haemoglobin: An abnormal form of haemoglobin called haemoglobin S (HbS) is found in people with sickle cell disease. This mutated form of haemoglobin causes red blood cells to become sickle-shaped and sticky when exposed to low levels of oxygen in the bloodstream.

• Pain: The most common symptom of sickle cell disease is pain, which can be unpredictable and can last for days or weeks. It is often described as a deep, dull, throbbing pain that can occur in the joints, chest, abdomen, or other parts of the body.
• Anaemia: People with sickle cell disease often have lower-than-normal levels of haemoglobin in their red blood cells, which can lead to fatigue and shortness of breath.
• Delayed growth and development: This is common in children with sickle cell disease due to malnutrition caused by frequent episodes of pain or lack of appetite.
• Infections: Since sickle cell disease impairs immunity and makes it more difficult for the body to fight off infections, frequent infections are also a symptom.

Other symptoms include jaundice (yellowing of the skin), vision loss due to eye damage caused by sickled red blood cells blocking tiny vessels in the eyes, sudden episodes of extreme paleness (pallor) due to low haemoglobin levels, and stroke due to blockages in blood vessels in the brain caused by sickled red blood cells.

• Genetic Counselling: Having genetic counselling can help people know the risks of passing the sickle cell trait onto their children.
• Preimplantation Genetic Diagnosis: This procedure is done before in-vitro fertilisation to identify embryos that do not carry the sickle cell gene.
• Vaccinations: Getting vaccinated for certain infectious diseases such as pneumococcal infections, influenza, and meningitis can help reduce the risk of complications associated with sickle cell disease.
• Healthy Lifestyle: Sickle cell disease consequences may be lessened by eating a good diet, exercising often, and quitting smoking.

• Haemoglobin Electrophoresis: This is the most common method used to diagnose sickle cell disease. It involves separating the different types of haemoglobin in a sample of blood by passing it through an electric current.
• Sickle Cell Solubility Test: This is a simple test that can detect the presence of Haemoglobin S in a sample of blood. It involves mixing a sample with special chemicals and observing if it stays dissolved or forms insoluble crystals, which indicates the presence of haemoglobin S.
• Complete Blood Count: The complete blood count test measures the number and size of red blood cells in a sample, including abnormal cells such as those associated with sickle cell disease.
• DNA Testing: DNA testing can be used to confirm a diagnosis of sickle cell disease if other tests are inconclusive or if there is a family history of the condition. It involves looking for specific genetic markers associated with the disease in an individual’s DNA.
• Foetal Ultrasound: A foetal ultrasound can be used to detect signs of sickle cell disease during pregnancy, such as an enlarged spleen or liver, or low levels of amniotic fluid that may indicate foetal anaemia due to sickle cell disease.

• Acute Chest Syndrome: Acute chest syndrome is a serious complication of sickle cell disease caused by a combination of infection, inflammation, and poor blood flow to the lungs.
• Stroke: Strokes from blockages in the brain's tiny blood arteries brought on by sickle cell disease may occur.
• Aplastic Crisis: Aplastic crisis is an acute episode where there is a sudden decrease in red blood cell production due to bone marrow failure. It can lead to severe anaemia and low oxygen levels in the body.
• Splenic Sequestration: Splenic sequestration occurs when large amounts of red blood cells collect in the spleen causing it to enlarge rapidly and leading to low oxygen levels in the body (hypoxia).
• Vaso-Occlusive Crisis: Vaso-occlusive crisis is a painful episode caused by blockage of small vessels with sickled red blood cells that impairs circulation and deprives tissues of oxygen leading to pain and organ damage including kidney failure or stroke.

Herbal remedies such as ashwagandha (Withania somnifera), shatavari (Asparagus racemosus) and aloe vera can be used to reduce inflammation and boost immunity.

People with sickle cell anaemia should also avoid smoking, drinking alcohol and consuming caffeine as it can further compromise the health of the individual suffering from this condition.

Regular exercise such as yoga or pranayama can help in improving the overall health of an individual with sickle cell anaemia by relieving stress, increasing mobility and strengthening the body’s natural healing process.

• Those with Sickle Cell Disease should eat a balanced diet (SCD).
• Foods that are rich in iron, such as lean red meat, fish, poultry, legumes, and fortified cereals and breads should be included in the diet.
• Folic acid-rich foods such as spinach, dark leafy greens, beans, citrus fruits, and fortified cereals can help reduce the risk of anaemia in SCD.
• Foods high in Vitamin C such as oranges and other citrus fruits can help improve iron absorption from food sources.
• Healthy fats like olive oil or avocados may be beneficial for people with SCD because they provide energy and essential fatty acids which may help reduce inflammation throughout the body.
• Hydrating foods such as fruits and vegetables should be included in the diet to ensure adequate hydration levels are maintained to protect against organ damage due to dehydration.

• Avoid fried, processed, fast food, candy, drink, and pastries since these items tend to be heavy in fat, salt, and sugar.
• Avoid alcohol since it may affect the way your body absorbs oxygen and interacts with drugs.
• Limit red meats such as beef, pork and processed meats like bacon.
• Limit dairy products like cheese and ice cream which can be high in fat and cholesterol.

• Blood Transfusions: Regular blood transfusions can help reduce the severity of symptoms in patients with sickle cell disease. The transfused red blood cells contain normal haemoglobin, which replaces the abnormal haemoglobin found in sickle cells and helps reduce episodes of pain or organ damage caused by the disease.
• Bone Marrow Transplant: A bone marrow transplant may be able to cure sickle cell disease completely. During this procedure, the patient’s own marrow is replaced with healthy donor marrow, which contains normal haemoglobin and can produce healthy red blood cells instead of sickled cells.
• Splenectomy: This is a surgical procedure to remove the spleen. In rare circumstances, removing the spleen might lessen the frequency and intensity of episodes.

The best doctor to consult for sickle cell disease is a haematologist.

Haematologists specialise in blood disorders, including sickle cell disease. They are experts in diagnosing, treating, and managing the disease.

• Hydroxyurea: Hydroxyurea is a medication that works to reduce the frequency of painful sickle cell crisis and helps to reduce the need for blood transfusions. It works by increasing the levels of foetal haemoglobin in the blood, which helps to reduce the number of sickle-shaped red blood cells.
• Immunosuppressants: Immunosuppressants are medications that work to suppress the body’s immune response, which can help reduce inflammation and pain associated with Sickle Cell Disease. Examples include azathioprine and prednisone.
• Pain Medications: Pain medications such as non-steroidal anti-inflammatory drugs (NSAIDs) or opioids can be used to manage acute pain during a sickle cell crisis.
• Antibiotics: Antibiotics are used to prevent or treat infections associated with Sickle Cell Disease, as individuals with this condition are more prone to getting infections due to their weakened immune system and reduced oxygen carrying capacity in their red blood cells.

The amount of time it takes to recover from Sickle Cell Disease depends on the severity of the illness, as well as the type of treatment that is used.

Generally speaking, healing might take a few weeks to many months.

It is important to note that while recovery is possible, there is no cure for Sickle Cell Disease and many patients will experience periods of relapse and remission throughout their life.

No, the treatment's effects are not irreversible. Depending on the type of treatment and condition, some treatments may provide long-term relief while others may need to be repeated periodically to maintain symptom relief.

• Follow doctor’s instructions: It is important that patients follow all instructions provided by their doctor concerning post-treatment care, including medications, physical activity, diet and lifestyle changes.
• Manage pain: Pain management is an important part of post-treatment care. Depending on the type of treatment received, patients may need to take over-the-counter pain medications or prescription pain medications to manage their pain symptoms.
• Get adequate rest: After any medical operation, it's critical for patients to obtain enough sleep to speed healing and recovery.This can include taking naps throughout the day or limiting physical activity until fully healed from the treatment.
• Maintain follow-up appointments: In order to track progress and guarantee long-term success with treatment outcomes, patients should keep all follow-up meetings with their doctor after any medical procedure.

Depending on the kind of therapy required, treating sickle cell disease in India might be expensive.

Generally, medications and hospitalizations for sickle cell crises can range from Rs. 5,000 to Rs. 10,000 per episode.

Other treatments such as blood transfusions and stem cell transplants can cost upwards of Rs. 3 to Rs. 4 lakhs.

Some common side effects include:

• Pain: As the primary symptom of sickle cell disease, pain is a common side effect of treatments. This includes pain from procedures such as bone marrow transplants or blood transfusions.
• Infection: Many treatments for sickle cell disease involve the use of immunosuppressant drugs, which can increase the risk of developing infections.
• Allergic reactions: Patients may experience allergic reactions to certain medications used to treat or prevent complications associated with sickle cell disease.
• Bleeding and clotting problems: Blood thinning medications and transfusions can increase the risk of bleeding and clotting problems.
• Organ damage: Long-term use of certain medications used to treat or prevent complications associated with sickle cell disease can cause damage to organs such as the kidneys, liver, and heart.
• Fatigue: Treatments such as chemotherapy and radiation may cause fatigue due to their effects on the body’s energy levels.

If you have any difficulties from sickle cell disease, you should see a doctor in your area very once. These complications may lead to things like 'stroke, acute chest syndrome, and aplastic crisis,' and the length of the necessary therapy depends on how severe the problem is.