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Understanding The Advancements In Paediatric Sickle Cell Disease: Treatment Options You Must Know About

Sickle cell disease is an inherited blood disorder that also affects children. Read to learn about the advancements made in treating the condition.
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Understanding The Advancements In Paediatric Sickle Cell Disease: Treatment Options You Must Know About

Sickle cell disease is an inherited blood condition that affects Red Blood Cells (RBCs) and haemoglobin in them. Haemoglobin is the protein that carries oxygen throughout the body. In general, inherited blood disorders, like sickle cell disease, are genetic conditions that affect various blood components that usually regulate the blood's ability to clot, transport oxygen, or fight infections.

Paediatric sickle cell disease refers to the development of the disorder in children. Due to their developing bodies and immune systems, children with sickle cell disease face several unique challenges and therefore require distinctive treatment plans tailored to their specific age and developmental stage. In an interaction with the OnlyMyHealth team, Dr Nandini Choudhury Hazarika, Lead Consultant, Medical Oncology, BMT, MBBS, MD- PEDS, Fellowship in Paediatric Oncology, BirthRight by Rainbow Hospitals, Malviya Nagar, New Delhi, discussed the advancements in paediatric sickle cell disease, listing some of the most effective treatment options.

Also Read: Sickle Cell Disease Awareness Month: Understanding Diagnosis, And Treatment

Sickle Cell Disease Prevalence

According to the US Centers for Disease Control and Prevention (CDC), sickle cell disease affects millions around the world and is more prevalent in people whose ancestors came from parts of the world where malaria is or was common. These include Sub-Saharan Africa, Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean, and Central America), Saudi Arabia, India, and Mediterranean countries such as Turkey, Greece, and Italy.

Dr Hazarika said, "India is estimated to have the second-highest burden of sickle cell disease after Nigeria, with approximately 10.4 lakh sickle cell disease patients among the tribal population."

"Paediatric sickle cell disease, once a diagnosis fraught with severe complications and limited treatment options, is a relevant marker for the medical progress we have made in the country," she added, highlighting that these advancements not only improve the quality of life for young patients but also offer new hope for a healthier future.

Sickle Cell Disease In Children

Sickle cell disease runs in families and occurs when a person inherits two faulty haemoglobin genes, known as haemoglobin S, one from each parent. This results in the production of abnormal haemoglobin, leading to sickle cell disease.

On the other hand, people who inherit one haemoglobin S gene from one parent and a normal haemoglobin A gene from the other parent have what is known as the sickle cell trait. People with the sickle cell trait are carriers of the haemoglobin S gene but usually lead normal lives without the severe symptoms of sickle cell disease.

The inheritance pattern of sickle cell disease is well-researched and understood. According to the National Heart, Lung, and Blood Institute, when one parent has one normal haemoglobin A gene and one haemoglobin S gene, their children have a 25% (1 in 4) chance of inheriting two normal haemoglobin A genes and not having sickle cell trait or disease. There is a 50% (1 in 2) chance that a child will inherit one normal haemoglobin A gene and one haemoglobin S gene, resulting in a sickle cell trait. Lastly, there is a 25% (1 in 4) chance that a child will inherit two haemoglobin S genes, resulting in sickle cell disease.

How Sickle Cell Disease Affects Children

Normally, a protein called haemoglobin carries oxygen inside the RBCs. However, in sickle cell disease, the defective haemoglobin forms chains that clump together and cause RBCs to shape like sickle tools. These break apart more easily than normal RBCs, damaging blood vessels and blocking blood flow.

Children who have sickle cell disease may experience various symptoms, which may differ for each child. Some of the common symptoms include:

  • Anaemia
  • Jaundice or yellowing of the skin and eyes
  • Sudden pain
  • Acute chest syndrome
  • Spleen crisis or splenic sequestration

Treatment Options For Paediatric Sickle Cell Disease

Dr Hazarika suggested that newborn screening and early intervention have revolutionised the management of sickle cell disease. "Universal newborn screening programs are critical, as they allow for early diagnosis and prompt intervention, significantly reducing morbidity and mortality. For instance, the administration of prophylactic penicillin to infants diagnosed with SCD has proven to prevent life-threatening infections such as those caused by Streptococcus pneumoniae," she said.

Adding further, the doctor shared a list of effective treatment options for children with sickle cell disease. These include:

Hydroxyurea therapy has been a game-changer for paediatric patients. Initially used for adults, hydroxyurea is now widely prescribed for children. This medication reduces the frequency of painful episodes, acute chest syndrome, and the need for blood transfusions by increasing foetal haemoglobin (HbF) production, which mitigates the sickling of red blood cells.

Blood transfusions and chemotherapy therapy play a pivotal role in managing SCD. Chronic transfusion therapy is essential for preventing strokes and managing severe complications in children identified as high-risk. However, repeated blood transfusions can lead to iron overload, making iron chelation therapy crucial. The advent of oral chelators like deferasirox has improved adherence to treatment and quality of life for these young patients.

Bone marrow and stem cell transplantation are at the cutting edge of curative treatments. Allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative option available today. Advances in donor matching and conditioning regimens have significantly improved success rates. Moreover, gene therapy is emerging as a promising curative approach. Clinical trials are showing encouraging results as scientists work to correct the genetic defect in hematopoietic stem cells.

Novel drug therapies have introduced new ways to manage SCD. Voxelotor, approved for paediatric use, works by increasing haemoglobin's affinity for oxygen, thus reducing sickling and improving anaemia. Another breakthrough is crizanlizumab, an anti-P-selectin antibody that reduces the frequency of vaso-occlusive crises (painful episodes) by preventing the adhesion of sickled cells to blood vessel walls.

Bottomline

According to Dr Hazarika, comprehensive care and a multidisciplinary approach are essential for the effective management of sickle cell disease.

She highlighted that specialised sickle cell centres provide comprehensive care, including regular monitoring, pain management, psychological support, and education. She also emphasised patient and family education in empowering families with knowledge about disease management, recognising complications early, and adhering to treatment plans.

Furthermore, the doctor shared that personalised pain management plans include opioids, non-opioid medications, and integrative therapies, which are tailored to the individual needs of each patient. Additionally, psychological and behavioural interventions such as cognitive-behavioural therapy (CBT) offer significant support in helping children and families cope with the chronic nature of the disease and associated pain, she added.

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