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Sickle Cell Disease

Sickle Cell Disease. Paolo Aquino, M.D., M.P.H., PGY I Combined Internal Medicine/Pediatrics. Outline. What is sickle cell disease? Epidemiology Manifestations Approach Treatment. What is it?.

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Sickle Cell Disease

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  1. Sickle Cell Disease Paolo Aquino, M.D., M.P.H., PGY I Combined Internal Medicine/Pediatrics

  2. Outline • What is sickle cell disease? • Epidemiology • Manifestations • Approach • Treatment

  3. What is it? • Sickle cell disease is one form of hemoglobinopathy- a structural abnormality in hemoglobin molecule • Substitution of glutamic acid by valine at the 6th position • Negatively charged amino acid replaced by neutral amino acid

  4. What is it? • Hgb S maintains normal function in oxygenated state • In de-oxygenated state- induced change in configuration allows valine to interact irregularly • Formation of highly ordered polymers • Polymers aggregate to rigid rods • Spiny brittle RBCs • Within vessels, thrombosis/obstruction

  5. Frequency • 8-10% of African Americans in the U.S. are carriers of Hgb S gene • Hgb SS disease occurs in 0.15% of African American newborns

  6. Manifestations • Generally, no symptoms are seen in the 1st 6 moths of life due to circulating fetal hemoglobin • Dactylitis (aka hand-foot syndrome) • Painful, symmetric swelling of hands and feet • Due to ischemic necrosis of small bones of hands and feet • ? Due to rapidly expanding bone marrow, choking of blood supply

  7. Manifestations • Acute pain episodes • Young children- extremities • Older patients- head, chest, abdomen, back • Recurrence of pain tends to occur in same sites within a particular individual • Exacerbated by fever, hypoxia, acidosis- promote deoxygenation of Hgb S

  8. Manifestations • Infarctions • Bone/bone marrow • Osteomyelitis- concern of salmonella infection • Autosplenectomy • Increased susceptibility to encapsulated organisms • Esp. pneumococcus & H.influenzae • Associated with reduction in serum opsonins • Pulmonary infarcts • Pneumonitis • Fat emboli

  9. Manifestations • Infarcts • Stroke • Kidney • Impaired renal function • Hyposthenuria • Priapism • Avascular necrosis

  10. Manifestations • Acute Chest Syndrome • Fever • Tachypnea • Chest pain • Hypoxia • Hypotension • X-ray findings

  11. Manifestations • Splenic seqestration • Large amounts of blood pools in spleen • Splenic enlargement • Criculatory collapse • Reason unknown • May follow febrile illness • Aplastic episodes- may follow infection with parvovirus B 19

  12. Manifestations • Cardiomegaly • Gallstones • Body habitus • Underweight • Delayed puberty

  13. Manifestations • Laboratory • Normocytic anemia- Hgb 5-9 mg/dL • Peripheral smear • Target cells • Poikilocytes • Sickled cells • Howell Jolly bodies • Leukocytosis with neutrophil predominance • Thrombocytosis • X-ray- expanded marrow spaces, osteoporosis

  14. Approach • History • Pain symptoms • Recognition of specific processes • Acute chest syndrome • Cholecystitis • Splenic seqestration • Priapism • Neurological changes

  15. Approach • Physical examination • General: fussiness, irritability, poor feeding • Vital signs • Neurological • HEENT: icterus, pallor, maxillary hyperplasia • Cardiac: murmur • Respiratory: assymetry of breath sounds

  16. Approach • Physical examination • Abdomen: assess for spleen, Murphy’s sign • GU: priapism • Extremities: edema, infllammation

  17. Approach • Work-up • Newborn screen • CBC, reticulocytes, peripheral smear • If febrile, blood culture • If lung findings, chest x-ray, blood gas • If abdominal pain, liver enzymes, UA, abdominal u.trasound • Consider x-ray of extremities • Head CT if neurological changes

  18. Treatment • Hydration- 1.5 times maintenance • Analgesia • ibuprofen • Acetaminophen +/- codeine • Ketorolac • Opiates

  19. Treatment • For respiratory distress • Antibiotic coverage • Supplemental oxygen • Partial exchange transfusion • For splenic sequestration • Repletion of intravascular volume • Severe anemia, transfuse

  20. Treatment • For suspicion of stroke • Exchange transfusion • For priapism • Analgesia, hydration • Partial exchange transfusion

  21. Treatment • Outpatient • Vaccinations • Pneumococcal, meningococcal, influenza vaccines • Penicillin prophylaxis • ? Folic acid therapy • Hydroxyurea for severe symptoms • Consideration for BMT for severe cases

  22. References • Nelson’s • eMedicine • 6 West Handbook

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