Sickle Cell Disease Treatment in Delhi, India

Sickle Cell Disease (SCD) is a group of inherited disorders that affect red blood cells. Normally, red blood cells are round and flexible, which allows them to move easily through blood vessels and carry oxygen to all parts of the body. In SCD, however, the red blood cells contain an abnormal type of haemoglobin called haemoglobin S. This causes the cells to become rigid, sticky, and shaped like sickles or crescent moons. These sickle-shaped cells can get stuck in small blood vessels, blocking blood flow and preventing oxygen from reaching various parts of the body. This blockage can cause severe pain, organ damage, and increase the risk of infections.

Sickle Cell Disease is caused by a change or mutation in a gene called the HBB gene which is responsible for the production of haemoglobin, a protein in red blood cells that carries oxygen throughout the body. Normally, haemoglobin helps red blood cells stay round and flexible. In Sickle Cell Disease, the mutation in the HBB gene causes the body to produce an abnormal type of haemoglobin called haemoglobin S. This abnormal haemoglobin makes red blood cells stiff and shaped like a sickle or crescent moon.

This genetic change is generally passed down from parents to their children. To have Sickle Cell Disease, a person needs to inherit the sickle cell gene from both parents. If they get the gene from just one parent, they are a carrier (have sickle cell trait) and usually don't have symptoms, but they can still pass the gene to their children. This type of inheritance is called an autosomal recessive pattern.

Here are the risk factors that can increase the likelihood of developing Sickle Cell Disease. 

• Inheritance: Having parents who are carriers of the sickle cell gene increases the risk of having a child with SCD.
• Ethnicity: SCD is more common in people of African, Hispanic, Mediterranean, Middle Eastern, or Asian Indian descent.

The symptoms of Sickle Cell Disease can vary from person to person and can range from mild to severe. Common symptoms include:

• Anaemia: Caused by the rapid breakdown of sickled red blood cells, leading to fatigue, weakness, and pallor.
• Pain Crises: Episodes of severe pain, also known as vaso-occlusive crises, occur when sickled cells block blood flow to different parts of the body. Pain can occur in the chest, abdomen, bones, and joints.
• Swelling: Painful swelling of the hands and feet, known as dactylitis, especially in infants and young children.
• Frequent Infections: SCD can damage the spleen, an organ that helps fight infections, making individuals more susceptible to bacterial infections.
• Delayed Growth: Children with SCD may experience slower growth and delayed puberty due to chronic anaemia.
• Vision Problems: Sickle cells can block the small blood vessels in the eyes, leading to damage and potential vision loss.
• Jaundice: Yellowing of the skin and eyes due to the breakdown of red blood cells.

It's important for individuals with Sickle Cell Disease to receive regular medical care and management to prevent complications and improve quality of life.

Diagnosing Sickle Cell Disease involves several tests to confirm the presence of the sickle cell gene and assess the severity of the condition. These include:

• Prenatal Screening: Tests to detect sickle cell genes can be conducted even before birth, allowing for early intervention and management. Sickle cell disease can be diagnosed in an unborn baby by sampling the amniotic fluid surrounding the baby in the womb. If the expectant parents have sickle cell anaemia or sickle cell trait, they should ask their healthcare team about this screening.
• Newborn Screening: In many countries, newborns are routinely tested for SCD shortly after birth using a blood sample from a heel prick. Early diagnosis allows for prompt treatment and management.
• Haemoglobin Electrophoresis: This test separates different types of haemoglobin in the blood and can identify the presence of haemoglobin S, confirming a diagnosis of SCD.
• Genetic Testing: Genetic tests can detect mutations in the HBB gene responsible for SCD. These tests can confirm the diagnosis and help identify carriers of the sickle cell trait.
• Complete Blood Count (CBC): A CBC measures the levels of red blood cells, haemoglobin, and other blood components. It can help determine if a person has anaemia, which is common in SCD.
• Blood Smear: A blood smear involves examining a sample of blood under a microscope to look for the characteristic sickle-shaped red blood cells seen in SCD.

Treatment for Sickle Cell Disease (SCD) focuses on managing symptoms, preventing complications, and improving quality of life. Key treatment options include:

Medications

• Hydroxyurea: This medication helps reduce the frequency of pain crises and the need for blood transfusions by increasing the production of foetal haemoglobin, which reduces the sickling of red blood cells.
• Pain Relief: Over-the-counter pain relievers like acetaminophen or ibuprofen can help manage mild pain, while stronger prescription pain relievers may be needed for more severe pain crises.
• Antibiotics: Penicillin or other antibiotics can help prevent infections, which individuals with SCD are more prone to due to a weakened spleen.

Blood Transfusions

Regular blood transfusions can help reduce the risk of stroke and other complications by increasing the number of normal red blood cells in circulation.

Bone Marrow or Stem Cell Transplant

A bone marrow or stem cell transplant can potentially cure SCD. This procedure involves replacing the affected bone marrow with healthy marrow from a compatible donor. However, it carries significant risks and is usually reserved for severe cases.

Gene Therapy

Emerging treatments in gene therapy aim to correct the genetic mutation responsible for SCD. While still experimental, these therapies hold promise for providing a long-term cure.

Supportive Care

• Hydration: Drinking plenty of fluids helps reduce the risk of sickle cell crises.
• Healthy Lifestyle: A balanced diet, regular exercise, and avoiding triggers such as extreme temperatures and stress can help manage the condition.
• Regular Check-ups: Frequent medical visits are essential to monitor the disease and manage complications promptly.

Patient Education and Counseling

Educating patients and their families about SCD, its management, and the importance of adherence to treatment plans is crucial. Psychological support and counselling can also help cope with the chronic nature of the disease.

Sickle cell disease (SCD) can lead to a variety of serious complications due to the blockage of blood flow by sickle-shaped red blood cells. Some common complications include:

• Pain crises: Severe, sudden episodes of pain in the bones, joints, muscles, and chest.
• Acute chest syndrome: A serious lung condition caused by infection or blockage of blood vessels in the lungs.
• Stroke: Occurs when blood flow to the brain is blocked, leading to neurological damage.
• Organ damage: SCD can affect the kidneys, liver, spleen, lungs, and heart.
• Anaemia: Chronic shortage of red blood cells due to their breakdown.
• Infections: People with SCD are more susceptible to infections due to a weakened immune system.
• Pulmonary hypertension: High blood pressure in the arteries of the lungs.
• Leg ulcers: Open sores on the legs that are difficult to heal.
• Priapism: Prolonged, painful erection of the penis.

While Sickle Cell Disease cannot be completely prevented, certain measures can reduce the risk of complications and improve quality of life:

• Regular medical care: Consistent check-ups, blood tests, and vaccinations are essential.
• Prompt treatment of infections: Antibiotics should be taken as prescribed to prevent complications.
• Avoiding triggers: Factors like dehydration, cold temperatures, and high altitudes can trigger sickle cell crises.
• Vaccinations: Getting recommended vaccinations helps protect against infections.
• Hydroxyurea: This medication can reduce the frequency and severity of sickle cell crises.
• Blood transfusions: Regular transfusions can help prevent complications like stroke.
• Genetic counselling: For couples with SCD or the sickle cell trait to understand the risks for their children.

It's important to remember that prevention and management of SCD are crucial for improving quality of life and lifespan.

What is the difference between sickle cell anaemia and sickle cell disease?

Sickle cell anaemia is a specific type of sickle cell disease (SCD). It occurs when a person inherits two sickle cell genes (one from each parent), resulting in haemoglobin SS (HbSS). This is the most severe form of SCD. Sickle cell disease, on the other hand, refers to a group of genetic disorders characterised by the presence of at least one sickle cell gene, which can include haemoglobin SC disease (HbSC), haemoglobin Sβ-thalassemia, and others.

What is the difference between sickle cell trait and sickle cell disease?

Sickle cell trait occurs when a person inherits one sickle cell gene and one normal gene. People with sickle cell trait generally do not have symptoms of the disease but can pass the gene to their children. Sickle cell disease occurs when a person inherits two sickle cell genes, leading to symptoms and complications associated with the condition.

How common is sickle cell disease?

Sickle cell disease affects millions of people worldwide, with a higher prevalence among individuals of African, Mediterranean, Middle Eastern, Indian, Latin American, and Caribbean descent. In the United States, it is estimated that approximately 100,000 people live with SCD.

Does sickle cell trait or sickle cell disease affect pregnancy?

Yes, both sickle cell trait and sickle cell disease can affect pregnancy. Women with sickle cell trait usually have normal pregnancies but should be monitored for potential complications. Women with sickle cell disease are at higher risk for complications such as preeclampsia, preterm labour, and low birth weight. They require close monitoring and specialised care during pregnancy.

Is there a cure for sickle cell disease?

Currently, the only potential cure for sickle cell disease is a bone marrow or stem cell transplant. However, this procedure is not suitable for everyone due to its risks and the need for a compatible donor. Research on gene therapy also shows promise as a future cure.

How do I take care of my child if they have sickle cell disease?

Caring for a child with sickle cell disease involves:

• Ensuring they stay hydrated and maintain a healthy diet.
• Keeping up with regular medical check-ups and vaccinations.
• Managing pain and symptoms with appropriate medications.
• Avoiding extreme temperatures and stress.
• Educating them about the disease and how to manage it.

Why does sickle cell disease cause pain?

Sickle cell disease causes pain due to the sickle-shaped red blood cells blocking blood flow in small blood vessels. This blockage, called a vaso-occlusive crisis, prevents oxygen from reaching tissues and organs, leading to severe pain.

Is sickle cell an autoimmune disease?

No, sickle cell disease is not an autoimmune disease. It is a genetic disorder caused by a mutation in the HBB gene that affects the shape and function of red blood cells.

At what age does sickle cell disease start?

Symptoms of sickle cell disease typically begin to appear in infancy or early childhood, usually around 5 to 6 months of age, when foetal haemoglobin is replaced by adult haemoglobin.

Is sickle cell disease painful?

Yes, sickle cell disease can be very painful. Pain episodes, known as pain crises or vaso-occlusive crises, are common and can vary in intensity and duration.

What should sickle cell patients avoid?

Sickle cell patients should avoid:

• Dehydration: Drink plenty of fluids.
• Extreme temperatures: Avoid both very hot and very cold environments.
• High altitudes: Be cautious in low-oxygen environments.
• Strenuous exercise: Manage physical activity to prevent overexertion.
• Infections: Stay up to date with vaccinations and practise good hygiene.

What organs does sickle cell disease damage?

Sickle cell disease can damage multiple organs, including:

• Spleen: Leading to increased infection risk.
• Liver: Causing liver damage or gallstones.
• Kidneys: Leading to kidney disease.
• Lungs: Causing acute chest syndrome and pulmonary hypertension.
• Brain: Increasing the risk of stroke.
• Eyes: Leading to vision problems.
• Bones: Causing bone infarctions and joint problems.

Reviewed By Dr Pratibha Dhiman, Senior Consultant - BMT (Bone Marrow Transplant) & Haemato Oncology on 24 Dec 2024.