Sickle Cell Disease
Sickle- cell Anaemia or Sickle cell disease is a genetically inherited form of Anaemia, commonly prevalent among people of African, Arabian and Indian origins. It is a condition in which the body is unable to produce enough red blood cells to carry sufficient oxygen for circulation. This can lead to several complications like a stroke, acute chest syndrome, pulmonary hypertension, organ damage, blindness, gallstones etc.
While there is no permanent cure for this disease, adopting certain treatment regimens can help prevent any complications that may arise through this disease.
Sickle cell disease is caused by a mutation in the gene that creates haemoglobin- the iron-rich compound present in red blood cells that gives blood its red colour.
In healthy individuals without sickle cell anaemia, the predominant type of haemoglobin is HbA, which allows red blood cells to carry oxygen from the lungs to all the parts of the body.
However, in people with sickle cell anaemia, a different, mutated type of haemoglobin, HbS is predominantly present. This HbS hampers the circulation of oxygen throughout the body by causing the red blood cells to adopt a sticky, crescent-shaped or sickle-shaped form in de-oxygenated conditions. This makes the red blood cells vulnerable to destruction – haemolysis and can also cause a blockage in blood vessels- occlusion, leading to more severe health complications that may arise as the disease progresses.
Genealogy of the disease
The gene that causes sickle-cell anaemia is passed on from generation to generation in a hereditary pattern called Autosomal- Recessive Inheritance. This means that both the parents must be ‘carriers’ and both mother and father need to pass on the defective gene for the child to be affected with the disease.
When only one of the parents is the carrier, the child can possibly inherit ‘the sickle cell trait’ from that parent, thus becoming a carrier with one defective haemoglobin gene (HbS) the sickle cell trait and one normal haemoglobin gene (HbA). Carriers or people with sickle-cell trait do not show the symptoms of sickle-cell anaemia. However, their blood will contain both, normal bi-concave shaped red blood cells and sickle-shaped red blood cells.
Whenever two people with sickle-cell trait conceive, there is:
- A 25% chance that the child will have sickle cell anaemia
- A 50% chance of the child being a carrier with ‘sickle cell trait
- A 25% chance that the child will be normal without ailments.
The signs and symptoms of sickle cell anaemia can vary from person to person and change over time. Most of the symptoms that manifest can be attributed to the haemolysis and occlusion that occurs during the course of the disease. Common symptoms include:
- Fatigue due to anaemia: Normal red blood cells function for 120 days, after which they are replaced. Sickle-shaped red blood cells, however, are easily destroyed within 10 to 20 days and thus hamper the circulation of oxygen in the body. This causes chronic fatigue and other issues like shortage of breath, fainting spells etc.
- Inflammation of hands and feet: Painful swelling of hands and feet is caused because sickle-shaped red blood cells tend to block blood flow to the extremities, hands and feet.
- Frequent Infections: Sickle-shaped red blood cells cause damage to the spleen which is responsible for recycling red blood cells and storing platelets and white blood cells. As a result, the immune system is compromised and the body becomes susceptible to infections.
- Periodic episodes of pain: Periodic episodes of pain called ‘Crises’ develop when the sickle-shaped red blood cells block blood flow. Pain is experienced in the muscles, bones, joints, chest etc with varying intensity and can last for a few hours.
- Impaired growth/development: Red blood cells are responsible for the supply of oxygen and nutrients in the body. Due to a shortage of red blood cells as a result of sickle cell disease, growth and development are impaired.
- Impaired eyesight: Sometimes, sickle-shaped red blood cells block the tiny blood vessels of the eye, causing substantial damage to the retina consequently causing visual impairment.
Sickle cell Anaemia Treatment in India
Treatment for sickle cell anaemia is usually aimed towards relieving symptoms and avoiding complications. The red blood cell count and health of anyone suffering from this disease must be monitored which is why regular check-ups with a certified doctor are of utmost importance. Some common methods of treating the symptoms of sickle cell anaemia are:
- Medication: Medications used to treat sickle-cell anaemia include:
- Antibiotics: Children with sickle-cell anaemia may be administered with antibiotics like penicillin when they are about 2 months old and may continue to take the medicines until age 5. Antibiotics help to ward off any infections like pneumonia and jaundice which can be life-threatening. These antibiotics can also be given to adults as a preventive measure against certain infections.
- Pain-killers: Pain-killers may be administered to people suffering with Crises or periodic episodes of pain, which is one of the most prominent symptoms of Sickle cell anaemia.
- Hydroxyurea: Hydroxyurea may be taken daily to relieve the pain caused during Crises. This drug has been seen to boost the body’s production of fetal haemoglobin- a type of haemoglobin which is typically found in infants which helps prevent the formation of sickle cells. However, long-term use of hydroxyurea may lead to some concerning side-effects. Therefore, consulting a doctor before taking this medicine and using it only as directed by a certified healthcare professional and doctor is essential.
- Blood Transfusions: Regular blood transfusions help in keeping the red blood cell count under check so that the symptoms of Anaemia can be controlled. People with sickle-cell anaemia are highly susceptible to get strokes. Blood transfusions can also help in reducing this risk and thus aid in prolonging a patient’s life.
- Vaccinations: Sickle-cell anaemia compromises the immune system leaving the patient susceptible to infections. Timely vaccinations right from childhood help in reducing the risk of contracting life-threatening infections, especially for children with sickle-cell anaemia.
- Additional Oxygen: Supplemental oxygen administered through a breathing mask helps by adding oxygen to the blood and aiding circulation. It is especially helpful when the patient is suffering from acute chest syndrome or sickle-cell crisis
- Bone-marrow transplant: The bone marrow is primarily responsible for the creation of red blood cells. Therefore, a bone marrow transplant proves to be the most effective method of treating sickle-cell anaemia where the impacted, sickle-cell producing bone marrow of the patient is replaced with a healthy bone marrow that produces normal red blood cells.
Bone marrow transplantation in India
Bone marrow transplantation makes for an effective and promising therapy method for haematological diseases like sickle cell anaemia. In this method, the dysfunctional bone marrow is replaced with healthy bone marrow, transplanted from a matching donor. Thus, as opposed to the sickle-shaped red blood cells that were initially being produced by the patient’s bone marrow, the new healthy bone marrow will produce healthy and efficiently functioning red blood cells.
One of the most important stages of the process is finding an eligible donor for the transplantation candidate. Treatment begins with tests for a tissue-match between the donor and patient. In this process, the doctor extracts healthy cells from the donor’s bone marrow and injects them into the patient’s body through an IV tube. Once these injected cells begin to function normally in the recipient’s body, it is said to be a match and after a few more similar tests, the bone marrow transplant is carried out.
In India, bone marrow transplants offer the only potential cure for sickle cell disease. This method is highly effective in approximately 90% of cases involving children suffering from the ailment. In order to minimize the risk of rejection of the transplanted bone marrow, certain medicines need to be administered.
Sickle cell treatment success rate in India
Sickle-cell Anaemia can be treated through a wide array of approaches. While most treatment methods resort to temporarily treating or avoiding the symptoms of the disease, bone marrow transplantation is the only potentially curative method for this disease.
The motivation and psychological status of the patient are two vital factors that directly contribute to the success rate for this treatment, therefore counselling the patients and informing them about the procedure is imperative. The current success rate of bone marrow transplantation for sickle-cell anaemia in India is 90%. In patients of Sickle cell disease with HLA identical sibling bone marrow transplantation, the success rate is 95%.
Sickle-cell treatment cost in India
Depending upon the treatment approach advised by the respective doctor, the costs incurred to treat sickle-cell anaemia will vary. As compared to other nations, India makes for a very promising destination for bone marrow transplants with its subsidized costs for the procedure and high success rates. The average cost for a bone marrow transplant in India is anywhere between USD 15000 TO USD 25000, depending on the type of bone marrow transplant opted for. These prices are inclusive of:
- Tests and Diagnosis
- Process of Bone-Marrow Transplants
- Drugs and Medication
- Food and lodging