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Clinical and Genetic Aspects of Sickle Cell Disease
 

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

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    Clinical and Genetic Aspects of Sickle Cell Disease Clinical and Genetic Aspects of Sickle Cell Disease Presentation Transcript

    • Clinical and Genetic Aspects of Sickle Cell Disease
      Presenter
      Waleed Bokhari
    • Outline
      • Hemoglobin structure and function
      • Definition (from clinical and genetics point of view)
      • Epidemiology
      • Symptoms and complications
      • Laboratory diagnosis and testing
      • Genetic investigations
      • Management
      • Promising Treatment and trials
    • Hemoglobin Structure and Function
      • Hemoglobin is a protein inside RBCs that caries O2
      • TheseRBCs normally are biconcave and flexible
      Dec 2010
    • 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
    • Pathology :
      Functionaly
      Low O2 carriers
      Structurly 
      Make clog more easily
      Dec 2010
    • Mutation :
      Gene located on the short arm (p) of chromosome 11
      Dec 2010
    • Sickle Cell Disease (Haemoglobinopathies)
      • It is an autosomalresessive
      genetic blood disorder
      Dec 2010
    • Epidemiology (Middle East)
      About 6,000 children are born annually with SCD
      50% of these in Saudi Arabia
      Dec 2010
    • 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
    • SCA Crisis and Related Complications
      • SplenicSequestration
      Hepertrophy AutosplenectomyHyposplinism (↓ activity)
      • Heamolytic Crisis
      Jaundice  Cholethiasis
      Osteoprosis
      Pulmonary Hyperttension
      Dec 2010
    • SCA Crisis and Related Complications
      • Aplastic Crisis
      Triggered By : Parvovirus 19B  Red blood cell precursor
      • Infections
        Osteomyelitis
      Meningitis
      Dec 2010
    • How to investigate SCD
      Blood Smear
      Dec 2010
    • How to investigate SCD
      Complete Blood Count
      RBC count
      WBC count
      Total hemoglobin level
      MCV  Mean Corpascular Volume
      MCH  Mean Corpascular Hemoglobin
      Dec 2010
    • How to investigate SCD
      Hemoglobin Solubility Test
      Hemoglobin Fractionation
      Dec 2010
    • How to investigate SCD
      Hemaglenopathy Evaluations  RFLP
      Adding Restriction Enzymes ( Mst II )
      Affected
      Normal
      Carrier
      Dec 2010
    • How to investigate SCD
      Preimplantation Genetic Diagnosis (PGD)
      Dec 2010
    • Management
      Medications
      FETAL HEMOGLOBIN INDUCTION
      Hydroxyurea(Hydroxycarbamide)
      Arginine Butyrate
      RBCs PRODUCTION
      Folic Acid (Vitamin B9)
      Erythropoietin
      Clotrimazole(hydration)
      Dec 2010
    • Management
      Vaccinations
      - HaemophilusInfluenzae B (HiB)
      - Hepatitis B
      - Meningococcus
      • Antibiotics  Penicillin
      Dec 2010
    • Management
      Blood Transfusion
      - Necessary if
      Child  CVA
      Adult  Chest syndrome (crisis)
      • Bone Marrow Transplantation
      Allogenic ( matched donor )
      Dec 2010
    • 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
    • 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
    • Thank You …
      December 2010