Clinical and Genetic Aspects of Sickle Cell Disease

1,880
-1

Published on

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
0 Comments
5 Likes
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total Views
1,880
On Slideshare
0
From Embeds
0
Number of Embeds
0
Actions
Shares
0
Downloads
0
Comments
0
Likes
5
Embeds 0
No embeds

No notes for slide

Clinical and Genetic Aspects of Sickle Cell Disease

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

×