Hemolytic anemia


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Hemolytic anemia

  1. 1. Hemolytic anemia By: TING LEE YING
  2. 2. 1. Thalassaemiasa)B-Thalassaemia-> 1. Major 2. Intermedia 3. Minima and minor 4. Traitb) A-Thalassaemia->1. Major 2. HbH 3. TraiT 4. Silent
  3. 3. Introduction 1. Thalassemia comes from the Greek word "thalassemia" which means "anemia by-the-sea." 2. The most common genetic disorder worldwide 3.Children with thalassemia: a) shorter red cell life b) HbF until older age c) red cell prone to oxidative stress
  4. 4. Epidemiology Worldwide- 3% for B-Thalassemia SEA- 5-10% for A-Thalassemia
  5. 5. Anaemia Neonate: Hb< 14g/dl 1-12 months: Hb< 10g/dl 1-12 years : Hb <11g/dl
  6. 6. Thalassemia Major ( Cooley’sanemia)1.Hb- Bo/Bo2. Chromosome 113. Epidemiology:- Indian subcontinent, Mediterranean, Middle East The estimated carrier rate for beta- thalassemia inMalaysia is 3.5-4%. There were 4768 transfusion dependent thalassemia major patients as of May 2010 (Data from National Thalassemia Registry).
  7. 7. B- Thalassaemia Major 1. Autosomal Recessive
  8. 8. Pathophysiology Mutation of B- globin chain deficiency of B-globin chain Increase in gamma and delta chainIncrease in HbF and HbA2, excess A4 Precipitation of globin chain Ineffective erythropoiesis(cell death)
  9. 9. Clinical manifestations:1. Presenting Age: 4- 6 months of life2. Presented with : a) Weakness b) Cardiac decompensation3.Hb level : </=4g/dl4. General symptoms(b4 transfusion)1. Fatigue2. Poor appetite3. Failure to thrive
  10. 10. Classical presentations1. Thalassemic facies2. Pathologic fractures3. Marked hepatosplenomegaly4. Cachexia5.Greenish brown complexion
  11. 11. I’m innocent T.TChipmunk face >.<
  12. 12. Complications of hemosiderosis 1. Hepatic- fibrosis and cirrhosis 2. Pancreas- DM (beta cells) 3. Pituitary, testis and ovaries- growth retardation, hypogonadotrophic hypogonadism 4. Parathyroid- hypocalcemia, osteoporosis 5. Heart- arrhythmias, myocarditis, cardiac failure.
  13. 13. Lab Findings and investigations 1. Hb Electrophoresis/ HPLC- a) Increased HbF b)Decreased or absent HbA c) HbA2 variable 2. FBC , peripheral blood film– anemia, high reticulocytes, numerous nucleated cell, microcytosis 3. Unconjugated bilirubin- increased 4. Serum ferritin and transferrin – elevated ( even b4 transfusion) 5. Red cell phenotyping (ideal)–transfusion 6.X- ray- bone marrow hyperplasia
  14. 14.  7. DNA analysis (optional)- confirm, prenatal diagnosis, detection of carrier 8.Liver function test 9.Infection screen- HIV, Hepatitis B and C, VDRL (before first transfusion) 10. HLA typing ( for all patient with unaffected siblings)
  15. 15. Hair on end sign
  16. 16. Treatment?When- completed blood investigation to confirm diagnosis:1. Blood transfusion ( life-long)Indication:a)Hb<7g/dl ( 2times, 2 weeks apart with no other factor eg infection)b) Hb>7g/dl if impaired growth, bones changes, hepatosplenomegaly. Goal : Hb – 9.5 g/dl( Post)Maintain : Hb 12-12.5g/dl and <15.5g/dl (mean post)Interval : 2-6 weekly interval( mean 4)Volume : 15-20mls/kg (max) over 4 hours.
  17. 17. 2. Assess Iron Overload via : a) Liver biopsyb) Ferritometryc) Serum Ferritin3. Iron Chelation ( Prevent hemosiderosis, haemochromatosis)- Deferoxamine( Desferal) / Deferiprone
  18. 18.  4. SplenectomyIndications: a)T. Intermediate- falling steady state Hb b) Transfused- Rising transfusion needsBlood consumption volume of PRBC >1.5x normal or >200-220ml/kg/year in those >5 years age to maintain norm level* Prophylaxis5. Bone marrow transplant(cure!)HLA- matched siblings
  19. 19. Iron chelation therapy?When- > 2years old and serum ferritin reaches 1000ng/ml (10-20 tranfusions)A) Deferoxamine(Desferal) given: -> SC over 10-12 hours via continuous infusion pump -> 5-7 days per week (severity dependent)Aim: Serum ferritin <1000ng/ml. Side effects: 1. Local skin irritation 2. Yersinia infection (fever, abdominal pain, diarrhea)
  20. 20. Toxicity >50mg/kg/day in low serum ferritin 1. Ototoxicity 2. Retinal changes 3. Bone dysplasia B) Deferiprone/L1( Kelfer/Ferriprox) Given: oral Dosage : 75-100mg/kg/day in 3 doses/daily (combination)-Less effective and side effectsa) Neutropeniab) Arthritisc) Hepatic fibrosis
  21. 21.  3. Deferasirox (Exjade)-new Targets: >2years Dosage: 20-30mg/kg/day in liquid dispersible tablet ( once!)
  22. 22. MonitorEach time1. Clinical assessment : Height, Weight, Liver and Spleen size2. Pre transfusion Hb, platelet , Post transfusion(half hour)3. Volume transfusedEvery 3-6 months1 Growth &Development2.Serum Ferritin3.LFT
  23. 23.  Every year (/more)1. Growth &Development2. Endocrine assessment( RBS,T4/TSH,Ca(PTH and vit D,Po4)3. Pubertal and Sexual (>10years)4. FSH,LH,Estrogen and testosterone5. Infection screen (Hep B and C , HIV, VDRL) (6 monthly)6. Cardiac assessment- ECG, Echo7. Liver Iron store
  24. 24. Thalassemia intermedia1. Combination of B- thalassaemia mutation ( Bo/B+, Bo/B variant, E/Bo)2. Late onset (> 2 years of age)2. HB level – >7g/dlControversy whether to transfuse
  25. 25. Thalassaemia minima or minor HB- heterozygotes (Bo/B, B+/B+) ( more severe than trait but less severe than intermediate Investigate phenotype and monitor iron accumulation
  26. 26. B- Thalassemia trait Misdiagnosed as iron deficiency Test: 1.Presistent red cell distribution width 2. Hb electrophoresis- Increased HBF and HBA2.
  27. 27. Alpha- Thalassemia Epidemiology:Malaria area especially in SEA.Intro1. 4 A-globin chain and therefore 4 deletional A Thalssaemia phenotype.2. Chromosome 16
  28. 28. A- Thalassaemia Deletion of A-globin Clinical manifestations geneSilent Trait 1 Diagnosed after birth with 2 gene deletion of Hb H ( B4)- Africa- AmericanA- Thalassaemia trait 2 Microcytic anemia, Hb elctrophoresis norm, ( eliminate Fe def and conf DNa testingHb H disease 3 Marked microcytosis and anemia, HB electrophoresis. ( may be assymtomatic)A- Thalassaemia Major 4( Transfusion Hydrop fetalis ( epsilon(Hb Barts Syndrome) dependent) globin gene must be present to survive, with mainly Barts’s , Gower 1, 2, Portland)
  29. 29. Hemoglobin Barts
  30. 30. Hb B -mild to moderate anaemia, hepatosplenomegaly, and jaundice. Some affected individuals also have bone changes(overgrowth of the upper jaw and an unusually prominent forehead).Alpha Thalassaemia Major Additional signs and symptoms:severe anaemia, hepatosplenomegaly, heart defects, and abnormalities of the urinary system or genitalia. serious complications for women during pregnancy: preeclampsia) premature delivery, and abnormal bleeding.
  31. 31. Treatment 1. Folate supplementation 2. Splenectomy 3. Transfusion- Intermittent for severe anemia (Hb H) Chronic transfusion (survivors of Hydrop fetalis) 4. Bone marrow transplant
  32. 32. Reference Nelson Textbook for Paediatrics, 17th Edition Illustrated Paediatrics, 3rd edition, Lissauer Clayden. Paediatric Protocols Malaysia, 2nd Edition CPG Malaysia www.Emedicine.com