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Hemolytic anemia

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  • 1. Hemolytic anemiaBy: TING LEE YING

2. 1. Thalassaemiasa)B-Thalassaemia-> 1. Major2. Intermedia3. Minima and minor4. Traitb) A-Thalassaemia->1. Major2. HbH3. TraiT4. Silent 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. Epidemiology Worldwide- 3% for B-Thalassemia SEA- 5-10% for A-Thalassemia 5. Anaemia Neonate: Hb< 14g/dl 1-12 months: Hb< 10g/dl 1-12 years : Hb .< 12. Complications of hemosiderosis 1. Hepatic- fibrosis and cirrhosis 2. Pancreas- DM (beta cells) 3. Pituitary, testis and ovaries- growthretardation, hypogonadotrophic hypogonadism 4. Parathyroid- hypocalcemia, osteoporosis 5. Heart- arrhythmias, myocarditis, cardiac failure. 13. Lab Findings and investigations 1. Hb Electrophoresis/ HPLC- a) Increased HbF b)Decreased orabsent HbAc) HbA2 variable 2. FBC , peripheral blood film anemia, highreticulocytes, numerous nucleatedcell, microcytosis 3. Unconjugated bilirubin- increased 4. Serum ferritin and transferrin elevated ( evenb4 transfusion) 5. Red cell phenotyping (ideal)transfusion 6.X- ray- bone marrow hyperplasia 14. 7. DNA analysis (optional)- confirm, prenataldiagnosis, 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 unaffectedsiblings) 15. Hair on end sign 16. Treatment?When- completed blood investigation to confirmdiagnosis:1. Blood transfusion ( life-long)Indication:a)Hb7g/dl if impaired growth, boneschanges, hepatosplenomegaly. Goal : Hb 9.5 g/dl( Post)Maintain : Hb 12-12.5g/dl and 1.5x normalor >200-220ml/kg/year in those >5 years age tomaintain norm level* Prophylaxis5. Bone marrow transplant(cure!)HLA- matched siblings 19. Iron chelation therapy?When- > 2years old and serum ferritin reaches1000ng/ml (10-20 tranfusions)A) Deferoxamine(Desferal) given: -> SC over 10-12 hours via continuous infusionpump -> 5-7 days per week (severity dependent)Aim: Serum ferritin 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. 3. Deferasirox (Exjade)-new Targets: >2years Dosage: 20-30mg/kg/day in liquid dispersible tablet ( once!) 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. 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. 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. 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. B- Thalassemia trait Misdiagnosed as iron deficiency Test: 1.Presistent red cell distribution width 2. Hb electrophoresis- Increased HBF and HBA2. 27. Alpha- Thalassemia Epidemiology:Malaria area especially in SEA.Intro1. 4 A-globin chain and therefore 4 deletional AThalssaemia phenotype.2. Chromosome 16 28. A- Thalassaemia Deletion of A-globin Clinical manifestationsgeneSilent Trait1Diagnosed after birth with 2 gene deletion of Hb H ( B4)- Africa- AmericanA- Thalassaemia trait 2Microcytic anemia, Hb elctrophoresis norm, ( eliminate Fe def and conf DNa testingHb H disease3Marked 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 Bartss , Gower 1, 2, Portland) 29. Hemoglobin Barts 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, heartdefects, and abnormalities of the urinary system orgenitalia. serious complications for women during pregnancy:preeclampsia) premature delivery, and abnormalbleeding. 31. Treatment 1. Folate supplementation 2. Splenectomy 3. Transfusion- Intermittent for severe anemia (HbH)Chronic transfusion (survivors ofHydrop fetalis) 4. Bone marrow transplant 32. Reference Nelson Textbook for Paediatrics, 17th Edition Illustrated Paediatrics, 3rd edition, LissauerClayden. Paediatric Protocols Malaysia, 2nd Edition CPG Malaysia