Sickle Cell Anaemia Treatment in Delhi, India

Clinical symptoms of sickle cell anaemia appear at the age of six months but can vary from person to person. Some symptoms are

• Anaemia: Normal RBCs have a life cycle of 120 days. However, sickle cells die early, in about 10 to 20 days, leading to an anaemic condition. The body, thus, doesn't get enough oxygen leading to fatigue.
• Episodes of Pain: People with sickle cell anaemia experience episodic pain, which is extreme in intensity and called a pain crisis. It is the hallmark symptom of sickle cell anaemia. Pain occurs because the anaemic sickle cells block blood flow through narrow and tiny vessels supplying the chest, joints and abdomen, leading to pain. The intensity of pain varies and lasts from a few hours to days. Some may experience a pain crisis once or twice a year, while others may have it over a dozen times. Moreover, some may also experience chronic pain in the joints. 
• Swelling of the Extremities: When the sickle cells stick to each other and block the vessel, they may accumulate fluids and cause swelling. This commonly affects the hands and feet.
• Frequent Infections: Sickle cells damage the spleen, which increases the chances of infection, especially in children. They are often vaccinated and prescribed antibiotics to prevent life-threatening conditions, for instance, pneumonia.
• Delayed Growth or Puberty: Red blood cells carry oxygen and nutrients that promote the growth of cells. A lack of this supply can affect growth in children and teenagers alike. 
• Vision Issues: Tiny blood vessels supplying the eyes may get plugged by sickle cells leading to retina damage and eyesight issues.

Sickle cell anaemia that occurs due to a change in the gene inherited from the previous generation. This faulty gene is responsible for the production of haemoglobin. This haemoglobin enables the blood cells to supply oxygen from the lungs to the body. In sickle cell anaemia, the cells become crescent-shaped, tend to stick to each other, and cause blockages in the blood vessels.

Both parents should have the gene for the child to express sickle cell anaemia. If only one parent has the gene, the child will carry the sickle cell trait.

With one typical haemoglobin gene and one altered form, people with the sickle cell trait will make both kinds of haemoglobin - typical and sickle cell. As a result, they may carry some sickle cells but not express any clinical symptoms. However, they can pass the gene to their children because they are carriers of the disease.

Doctors recommend a blood exam to assess the morphology of the RBC. In addition, the levels of haemoglobin also indicate an underlying anaemic condition. If the child has sickle cell anaemia, doctors recommend other tests to check for possible disease complications. Simultaneously, if the child carries the sickle cell trait, a genetic counsellor should be consulted.

Some tests that can be carried out include:

• Ultrasound tests reveal children who are at a higher risk of developing a stroke.
• Genetic testing before birth in unborn babies can help determine the possibility of the child developing sickle cell anaemia.

Management of sickle cell anaemia usually avoids pain episodes, relieves symptoms and prevents complications. Treatment options include medications and transfusion of blood. Stem cell transplant might also help cure the disease in some children.

Medicines

• Hydroxyurea: Daily administration of hydroxyurea lowers the frequency of painful crises. In addition, it decreases the requirement for blood transfusions. However, it adds to the risk of infections. Avoid this drug when pregnant.
• L-glutamine Oral Powder (Endari): FDA recently approved Endariug for the treatment of sickle cell anaemia since it has been shown to be effective in delaying the episodes of pain crises.
• Crizanlizumab: This drug is injected to reduce the frequency of pain crisis episodes in adults over 16 years of age. However, it has side effects such as joint pain, nausea, back pain and fever.
• Voxelotor (Oxbryta): This drug is taken orally for affected individuals older than 12 years of age. It lowers the risk of anaemia. In addition, the flow of blood throughout the body also improves. However, side effects associated include nausea, diarrhoea, rash, headache, fatigue and fever.

Children with sickle cell anaemia might receive penicillin shots between two months old and at least age five years to prevent infections like pneumonia. This is because pneumonia is life-threatening to children with sickle cell anaemia.

Affected adults, especially those with removed spleen and a history of pneumonia, are often prescribed penicillin for a lifetime. Childhood vaccinations also help prevent disease. 

Surgical Procedures

Blood transfusions: These prevent complications in people with sickle cell disease, such as stroke. In an RBC transfusion, the blood cells are removed from donated blood and injected into the recipient's vein. The increase in RBCs in an affected individual's blood helps deal with symptoms and complications.

However, this procedure carries certain risks, such as:

• An immune response to the donor blood
• Infection
• Excess iron buildup in the body due to donor blood

Additional treatment is required to prevent the buildup of iron in the body. Since excess iron can disrupt the functions of organs, its excess needs to be controlled.

Sickle cell anaemia is associated with numerous complications, such as:

• Stroke: Sickle cells have the tendency to stick to each other and block the flow of blood to an area of the brain. Some associated signs are seizures, sudden speech difficulties, weakness or numbness of the arms and legs, and loss of consciousness.
• Acute chest syndrome: This syndrome occurs when the lungs are infected, or the cells block the flow of blood to the lungs causing this life-threatening complication. As a result, the patient experiences fever, chest pain, and difficulty breathing. 
• Pulmonary hypertension: The pressure within the lungs often increases in patients with sickle cell anaemia. Some signs include fatigue and shortness of breath.

Other complications include

• Blindness
• Splenic sequestration
• Organ damage
• Leg ulcers
• Gallstones
• Priapism
• Deep vein thrombosis
• Pregnancy complications