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Clinical and Genetic Aspects of Sickle Cell Disease

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Clinical and genetics of SCD …

Clinical and genetics of SCD
Epidemiology in the Middle East
SCD crisis and complications
Diagnosis and testing
Genetic investigations
Management
Promising Treatment and trials

Published in: Health & Medicine

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  • 1. Clinical and Genetic Aspects of Sickle Cell Disease
    Presenter
    Waleed Bokhari
  • 2. Outline
    • Hemoglobin structure and function
    • 3. Definition (from clinical and genetics point of view)
    • 4. Epidemiology
    • 5. Symptoms and complications
    • 6. Laboratory diagnosis and testing
    • 7. Genetic investigations
    • 8. Management
    • 9. Promising Treatment and trials
  • Hemoglobin Structure and Function
    • Hemoglobin is a protein inside RBCs that caries O2
    • 10. TheseRBCs normally are biconcave and flexible
    Dec 2010
  • 11. Sickle Cell Disease (Haemoglobinopathies)
    It is an autosomalresessive genetic blood disorder
    • Characterized by
    RBCs that assume
    Abnormal Crescent
    Rigid & Sickle
    shape
    • Caused by
    Abnormal hemoglobin S ( HbS)
    Dec 2010
  • 12. Pathology :
    Functionaly
    Low O2 carriers
    Structurly 
    Make clog more easily
    Dec 2010
  • 13. Mutation :
    Gene located on the short arm (p) of chromosome 11
    Dec 2010
  • 14. Sickle Cell Disease (Haemoglobinopathies)
    • It is an autosomalresessive
    genetic blood disorder
    Dec 2010
  • 15. Epidemiology (Middle East)
    About 6,000 children are born annually with SCD
    50% of these in Saudi Arabia
    Dec 2010
  • 16. SCA Crisis and Related Complications
    • Vaso-Occlusive Crisis
    Stroke (CVA)
    Avascular Necrosis
    Retinopathy
    Myocardial Infarction
    Renal Tubular Necrosis
    Dactylitis
    Leg ulceration
    Priapism and clitorism
    Chronic Pain
    Acute Chest Syndrome
    Dec 2010
  • 17. SCA Crisis and Related Complications
    • SplenicSequestration
    Hepertrophy AutosplenectomyHyposplinism (↓ activity)
    • Heamolytic Crisis
    Jaundice  Cholethiasis
    Osteoprosis
    Pulmonary Hyperttension
    Dec 2010
  • 18. SCA Crisis and Related Complications
    • Aplastic Crisis
    Triggered By : Parvovirus 19B  Red blood cell precursor
    • Infections
      Osteomyelitis
    Meningitis
    Dec 2010
  • 19. How to investigate SCD
    Blood Smear
    Dec 2010
  • 20. How to investigate SCD
    Complete Blood Count
    RBC count
    WBC count
    Total hemoglobin level
    MCV  Mean Corpascular Volume
    MCH  Mean Corpascular Hemoglobin
    Dec 2010
  • 21. How to investigate SCD
    Hemoglobin Solubility Test
    Hemoglobin Fractionation
    Dec 2010
  • 22. How to investigate SCD
    Hemaglenopathy Evaluations  RFLP
    Adding Restriction Enzymes ( Mst II )
    Affected
    Normal
    Carrier
    Dec 2010
  • 23. How to investigate SCD
    Preimplantation Genetic Diagnosis (PGD)
    Dec 2010
  • 24. Management
    Medications
    FETAL HEMOGLOBIN INDUCTION
    Hydroxyurea(Hydroxycarbamide)
    Arginine Butyrate
    RBCs PRODUCTION
    Folic Acid (Vitamin B9)
    Erythropoietin
    Clotrimazole(hydration)
    Dec 2010
  • 25. Management
    Vaccinations
    - HaemophilusInfluenzae B (HiB)
    - Hepatitis B
    - Meningococcus
    • Antibiotics  Penicillin
    Dec 2010
  • 26. Management
    Blood Transfusion
    - Necessary if
    Child  CVA
    Adult  Chest syndrome (crisis)
    • Bone Marrow Transplantation
    Allogenic ( matched donor )
    Dec 2010
  • 27. Management
    Treating other complications
    Aggressive Hydration
    O2 Therapy
    Analgesia ( Opiates .. Narcotics )
    - Kidney Dialysis  in case of Acedosis
    - Bone Replacement  Pathological Fractures (Avascular Necrosis)
    • Surgery
    Priapism ( Shunt / Irrigation )
    Leg Ulcers
    Eye Vascular Damage
    Dec 2010
  • 28. Promising Treatment and trials
    • Site-Directed Mutagenesis (1994)
    Recombinant BPG mutase
     Decrease 2,3 DPG
    • Gene Correction (1997)
    Hemoglobin (S) gene
    • Gene Transplantation(2001)
    Anti-sickle gene
    • Gene Replacement (2008)
    γ – chain gene
    Dec 2010
  • 29. Thank You …
    December 2010