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Sickle cell anemia

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DREPANOCYTOSIS AND PANMYELOPHTISIS AKA SICKLE CELL ANEMIA

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Sickle cell anemia

  1. 1. Drepanocytosis & Panmyelophthisis J Darshan Ranganath
  2. 2. DREPANOCYTOSIS • Also known as sickle cell anaemia • Characterised by the presence of Hbs which imparts sickle shape to the RBCs during reduced oxygen tension • Autosomal Recessive
  3. 3. GEOGRAPHICAL DISTRIBUTION
  4. 4. • Sickle cell anaemia –SS one gene each from both the parents • Sickle cell trait- heterozygous state-AS-one gene from one parent is for HbS while other gene is for HbA • Sickle cell disease- refers to all diseases in which atleast one gene is of HbS which maybe in combination with normal or abnormal gene eg. Thalassemia,HbE,HbC,etc..
  5. 5. GENETICS – PUNNETT SQUARE
  6. 6. Hemoglobin S (Hb S) is the result of a single base pair change, thymine for adenine, at the 6th codon of the β-globin gene. This change encodes valine instead of glutamine in the 6th position in the β-globin molecule
  7. 7. PATHOGENESIS
  8. 8. CLINICAL FEATURES • Age of onset – 3 months to 1 year of life (<3 months- HbF protects RBCs) • Growth and development – reduced height & weight , delayed puberty • Bony Abnormalities – Hand food syndrome , Cod fish spine, Osteomyelitis due to staphylococcus, salmonella • Spleen- initially enlarges but after 5-6 years of age autosplenectomy
  9. 9. SICKLE DACTYLITIS SALMONELLA TYPHIMURIUM OSTEOMYELITIS
  10. 10. • Infections- pneumonia,meningitis,osteomyelitis • Cardiopulmonary system- Acute chest syndrome (fever,chest pain,^WBC,pulmonary infiltrates) , Atypical Pneumonia,Cardiomegaly,Anaemia • Hepatobiliary system: Jaundice, Hepatomegaly,Gall Stones • Genitourinary-Renal Papillary Necrosis,Priapism • Eye- Sickle retinopathy(salmon patch haemorrhages n sea fans) • CNS- stroke • Leg ulcers
  11. 11. ACUTE CHEST SYNDROME LOWER BULBAR CONJUNCIVA - SEQUESTRSTIONS
  12. 12. CRISES • SICKLING CRISIS • HAEMOLYTIC CRISIS • APLASTIC CRISIS • SEQUESTRATION CRISIS
  13. 13. INVESTIGATIONS • HAEMATOLOGICAL FINDINGS Anaemia,WBC- TLC shift to left,Platelets ^ Peripheral smear – Anisopoikilocytosis,Sickle cells,Target cells,Ovalocytes,Howell Jolly bodies if autosplenectomy has taken place Reticulocytosis,low haptoglobulin,^urobilinogen,low ESR Marrow- Hypercellular with erythroid hyperplasia demonstrating normoblastic reaction
  14. 14. DIAGNOSTIC TESTS • Sickling test- adding reducing agent like 2% sodium metabisulphite • Hb electrophoresis – Hb S is a slow moving Hb • HPLC • Hb F estimation • Family studies • Hb S solubility
  15. 15. PRINCIPLES OF TREATMENT • Folic acid • Patient education – awareness about precipitating factors about crisis • Hydroxy urea- reduces the incidence of sickling and elevates Hb F • Blood transfusions • Treating infections
  16. 16. PREVENTION • Chorionic villous sampling at 10-12 weeks gestational age
  17. 17. PANMYELOPTHISIS • Synonymous with Aplastic Anaemia • Aplastic anemia is a clinical syndrome manifested as a deficiency of red cells, neutrophils, monocytes, and platelets in the blood, and fatty replacement of the marrow with a near absence of hematopoietic precursor cells
  18. 18. NORMAL MARROW APLASTIC MARROW
  19. 19. BONE MARROW IS THE BLOOD FACTORY! • MAY BE EXPOSED TO DAMAGE OR FAILURE
  20. 20. CAUSES
  21. 21. HEREDITARY • Fanconi’s anaemia • Dyskeratosis congenita • Dubowitz syndrome • Seckel syndrome • Reticular dysgenesis • Shwachman Diamond • WT syndrome
  22. 22. DRUGS • Antibiotics- Chloramphenicol,cotrimoxazole,nitrofuratoin • Antiinflammatory- Phenybutazone,Indomethacin,Diclofenac • Antithyroid-Carbimazole,Methimazole,Methyl thiouracil • Psychotropic-Phenothiazine • Anticonvulsant-Phenytoin • DMARD-Gold salts,d-penicillamine • Cytotoxic drugs- Vincristine,Adriamycin,methotrexate
  23. 23. TOXINS • Benzene • Commercial solvents • Aresenic • Ionizing radiation VIRUS • Epstein-Barr virus • Non-A, non-B, non-C, non-D, non-E, and non- G hepatitis virus • Human immunodeficiency virus
  24. 24. AUTOIMMUNE/CONNECTIVE TISSUE DISORDERS • Eosinophilic fasciitis • Immune thyroid disease (Graves disease, Hashimoto thyroiditis) • Rheumatoid arthritis • Systemic lupus erythematosus
  25. 25. PATHOGENESIS • Stem cell defect Environmental factors • Activated T cells of CD8 type hampering stem cell proliferation Immune mechanism
  26. 26. CLINICAL FEATURES LOW RBC fatigue Shortness of breath Chest pain pallor Coldness in feet/hands dizziness
  27. 27. Low WBC fever infection Low Platelets Easy brusing Prolonged bleeding
  28. 28. HAEMATOLOGIAL FINDINGS • PANCYTOPENIA – paucity in WBC, RBC, platelets,decreased Hb,PCV • RETICULOCYTOPENIA • BONE MARROW ASPIRATE – marked hypocellularity(replaced by fat), paucity of erythroid,myeloid and megakaryocytic precursors • BONE MARROW TREPHINE BIOPSY
  29. 29. MARROW SMEAR APLASTIC BIOPSY
  30. 30. PRINCIPLES OF TREATMENT • SUPPORTIVE - packed red cells for anaemia - platelets for thrombocytopenia - G-CSF/GM CSF to raise neutrophil count - Antibiotics prophylactically
  31. 31. ATTEMPTS TO RESTORE MARROW ACTIVITY • IMMUNOSUPPRESIVE THERAPY – Antilymphocytic globulin,Cyclosporin,Antithymocyte globulin • ANDROGENS/ANABOLIC STEROIDS • ALLOGENIC BONE MARROW TRANSPLANTATION

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