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The participants are required to attempt the given discussion questions after attending the associated online webinar:

  1. What is the pathophysiology associated with SCD in children?
  2. What are the clinical manifestations associated with SCD in children?
  3. What are the latest recognized guideline recommendations for the diagnosis of SCD in children in different clinical indications?
  4. What are the evolving treatment paradigms and comprehensive management for pediatric patients with SCD?

Comments

Jennifer Hahn replied on

1. What is the pathophysiology associated with SCD in children?

  • SCD is a genetic blood disorder where red blood cells become sickle-shaped (like a crescent) instead of round.

  • These sickle cells are hard, sticky, and break down early, causing anemia.

  • They also block blood flow by sticking to blood vessel walls, which leads to pain and organ damage.

  • It’s caused by a mutation in the hemoglobin gene (HbS).

2. What are the clinical manifestations associated with SCD in children?

Children with SCD can show symptoms such as:

  • Pain episodes (called sickle cell crises)

  • Swelling in hands and feet

  • Fatigue and paleness (due to anemia)

  • Frequent infections

  • Delayed growth and puberty

  • Vision problems

  • Stroke (in severe cases)

3. What are the latest recognized guideline recommendations for the diagnosis of SCD in children in different clinical indications?

  • Newborn screening is recommended in all U.S. states and many countries.

  • Hemoglobin electrophoresis or high-performance liquid chromatography (HPLC) is used to confirm the diagnosis.

  • For children with family history or symptoms, testing is done early.

  • Transcranial Doppler (TCD) is used in children aged 2–16 to check stroke risk.

  • Genetic counseling is advised for families.

4. What are the evolving treatment paradigms and comprehensive management for pediatric patients with SCD?

Treatment and management include:

  • Hydroxyurea (a daily medication that reduces pain crises and complications)

  • Chronic transfusions (for stroke prevention)

  • Penicillin (to prevent infections in young children)

  • Vaccinations (especially against pneumonia, meningitis, and flu)

  • Bone marrow transplant (a potential cure, but not available for everyone)

  • Newer treatments like voxelotor, crizanlizumab, and gene therapy are emerging.

  • Regular follow-ups and a comprehensive care team (including hematologists, pediatricians, and social workers) are key for long-term health.

Jennifer Hahn replied on

Muskan Khan replied on

 

1. Sickle Cell Disease (SCD) is caused by a mutation in the hemoglobin gene, leading to the production of abnormal hemoglobin S. Under low oxygen conditions, this hemoglobin polymerizes, causing red blood cells to become rigid and sickle-shaped. This results in vaso-occlusion, hemolytic anemia, and various complications.

2. Children with SCD may experience pain episodes (vaso-occlusive crises), anemia, increased risk of infections, acute chest syndrome, stroke, delayed growth, and organ damage.

3.Diagnosis typically involves newborn screening followed by confirmatory testing such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC). Guidelines emphasize early diagnosis and regular monitoring for complications.

4.Treatment includes hydroxyurea to reduce sickling episodes, regular blood transfusions for severe cases, and potentially curative therapies like hematopoietic stem cell transplantation. Comprehensive care involves routine health maintenance, infection prevention, pain management, and multidisciplinary support.

 

Muskan Khan replied on

Kassie Abbott replied on

- The change of red blood cells becoming sickle shaped, hard/sticky, and eventually blocking blood flow which can cause organ damage. 

- Pain, swelling, fatigue, and stroke are a few.

- Newborn screening and blood tests done within the first few months after birth. Additional testing in children between 2-16 for stroke risk and counseling when applicable. 

- The use of medications to increase blood production (for example Hydroxyurea), transfusions, vaccines (such as the Meningococcal vaccine), and regular follow-ups with specialists.

Kassie Abbott replied on

Aryia Ried replied on

  • polymerization of sickle hemoglobin, leading to rigid, crescent-shaped red blood cells 
  • anemia, jaundice, pain crises, and acute chest syndrome
  • Early Diagnosis & Prevention, routine care

Aryia Ried replied on

Adrienne Barfield replied on

1. Abnormal hemoglobin polymerization, red blood cell sickling and hemolysis, Vaso-occlusion and inflammation, organ damage and immune dysfunction

2. Pain crises, Anemia and fatigue, Infections (due to asplenia), Acute chest syndrome, Stroke and cognitive delays, Splenic sequestration, Growth delays

3. The latest guideline recommendations for diagnosing SCD in children emphasize: Universal newborn screening and early confirmatory testing, Hemoglobin electrophoresis or HPLC as diagnostic gold standards, testing in symptomatic children, at-risk siblings, and prenatal settings, A strong focus on early, accurate diagnosis to enable timely intervention

4. Newborn screenings, hydroxyurea, transfusions, vaccines, penicillin, and VOC care

 

Adrienne Barfield replied on

Jesseca Anthony replied on

  1. What is the pathophysiology associated with SCD in children?    Polymerization of sickle (Hbs) leading to sickled blood cells.
  2. What are the clinical manifestations associated with SCD in children? Anemia, pain crises, and acute chest syndrome.
  3. What are the latest recognized guideline recommendations for the diagnosis of SCD in children in different clinical indications?  Genetic testing, and laboratory identification of abnormal hemoglobin.
  4. What are the evolving treatment paradigms and comprehensive management for pediatric patients with SCD?  Expand use of hydroxyurea, new disease modifying therapies, and gene therapy, alongside comprehensive management focused on prevention and early intervention.

Jesseca Anthony replied on

Krystle Watson replied on

  1. GENETIC MUTATION, RBC SICKLING, HEMOLYSIS AND ANEMIA, VASO-OCCULSIVE, ORGAN DAMAGE 
  2. ANEMIA SYMPTOMS: FATIGUE, IRRITABILITY, JAUNDICE AND DELAYED GROWTH
  3. NEWBORN SCREENING, SYMPTOMATIC CHILDREN W/O SCREENING, SCREENING FOR COMPLICASTION AND SEVERITY, (hplc, ief, cbc, retic,  penicillin prophylaxis initiation)
  4. EARLY DIAGNOSIS AND PREVENTATIVE CARE, HYDROXYUREA THERAPY, CHRONIC TRANSFUSION, EMERGING THERAPY GENE THERAPY ETC 

Krystle Watson replied on

Donnique Smikle replied on

  1. Children that have SCD make an abnormal type of hemoglobin.
  2. Jaundice, frequent pain etc
  3. Identifying Multi-Organ Failure Syndrome in Sickle Cell Disease and the Need to Transfer Patients for Management
  4. Current management strategies. 

Donnique Smikle replied on

Ashley Staley replied on

1.) SCD in children is cause by a mutation in the HBB gene leading to the production of HbS instead of normal HbA. 

2.) Dactylitis, pain crises, anemia, infections, ACS, stroke, delayed puberty, jandice/gallstones

3.) Newborn screening and confirmatory testing via Hgb electrophoresis or HPLC, as well as, diagnostic evaluation (stroke risk, organ function monitoring, lab assessments)

4.) B Curative therapy, Disease-modifying therapies (hydroxyurea, L-glutamine, gene therapy, voxelotor ), supportive/preventative care, & psychosocial and developmental support

Ashley Staley replied on

Danielle Verity replied on

  1. What is the pathophysiology associated with SCD in children? abnormal HbS
  2. What are the clinical manifestations associated with SCD in children? anemia, jaundice, pain crisis, acute chest syndrome and splenic sequestration
  3. What are the latest recognized guideline recommendations for the diagnosis of SCD in children in different clinical indications? emphasize early detection and comprehensive management, including prophylactic PCN, hydroxyurea and regular monitoring
  4. What are the evolving treatment paradigms and comprehensive management for pediatric patients with SCD? Early identification and prevention, disease-Modifying Therapies, curative approaches, and Comprehensive management

Danielle Verity replied on

Princess Walker replied on

  1. What is the pathophysiology associated with SCD in children? abnormal HbS
  2. What are the clinical manifestations associated with SCD in children? anemia, jaundice, pain crisis, acute chest syndrome and splenic sequestration
  3. What are the latest recognized guideline recommendations for the diagnosis of SCD in children in different clinical indications? emphasize early detection and comprehensive management, including prophylactic PCN, hydroxyurea and regular monitoring
  4. What are the evolving treatment paradigms and comprehensive management for pediatric patients with SCD? Early identification and prevention, disease-Modifying Therapies, curative approaches, and Comprehensive management

Princess Walker replied on

Lissy Prieto replied on

1. Mutation in the beta-globin gene leading to abnormal hemoglobin S (HbS) causing tissue ischemia, pain, and organ damage.

2. Vaso-occlusive crises, Anemia, Acute chest syndrome, Stroke, Infections, Splenic sequestration, Dactylitis, Chronic complications

3. Newborn screening, Confirmatory testing, Diagnostic testing in symptomatic children, Genetic counseling, Routine laboratory monitoring

4. Hydroxyurea, Chronic transfusion therapy, Newer therapies, Infection prevention, Pain management, Psychosocial and developmental support, Comprehensive care models, Hematopoietic stem cell transplant

Lissy Prieto replied on

Jenell Blake replied on

Key evolving strategies include:

  • Hydroxyurea: First-line disease-modifying therapy, now recommended starting as early as 9 months.

  • Chronic transfusions: For stroke prevention or severe complications.

  • Bone marrow transplant: The only curative option, considered in severe cases.

  • Gene therapy: Emerging curative option currently under investigation.

  • Multidisciplinary care: Involves hematologists, primary care, social workers, and education support.

  • Routine vaccinations and penicillin prophylaxis: Essential to reduce infection risks.

  • Psychosocial support and pain management: Crucial for long-term quality of life.

Jenell Blake replied on

Jenell Blake replied on

Key evolving strategies include:

  • Hydroxyurea: First-line disease-modifying therapy, now recommended starting as early as 9 months.

  • Chronic transfusions: For stroke prevention or severe complications.

  • Bone marrow transplant: The only curative option, considered in severe cases.

  • Gene therapy: Emerging curative option currently under investigation.

  • Multidisciplinary care: Involves hematologists, primary care, social workers, and education support.

  • Routine vaccinations and penicillin prophylaxis: Essential to reduce infection risks.

  • Psychosocial support and pain management: Crucial for long-term quality of life.

Jenell Blake replied on

Jenell Blake replied on

What is the pathophysiology associated with SCD in children? The study of disordered phsiological processes that are associsted with disesease or injury.

Jenell Blake replied on

Jenell Blake replied on

Pathophysiology is the study of disordered physiololgical processes that are associated with disease or injury.

Jenell Blake replied on

Jenell Blake replied on

NA

Jenell Blake replied on

Jenell Blake replied on

NA

Jenell Blake replied on

Karlene Maragh replied on

1)  What is the pathophysiology associated with SCD in children?

             -causes red blood cells to sickle, leading to blocked blood flow, chronic anemia, inflammation, and organ damage.

2)  What are the clinical manifestations associated with SCD in children?

            -pain crises, anemia, infections, delayed growth, acute chest syndrome, and stroke

3)  What are the latest recognized guideline recommendations for the diagnosis of SCD in children in different clinical indications?

           -CDC, NIH & American society of Hematology

4)  What are the evolving treatment paradigms and comprehensive management for pediatric patients with SCD?

          -early diagnosis, prevention, personalized treatment plans

 

Karlene Maragh replied on