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Common Haematological Problems in ChildhoodPhilip ConnorPaediatric HaematologyChildren’s Hospital for Wales, CardiffSickle...
Common Haematological Problems in ChildhoodObjectives Of Paediatric Team• (Diagnosis)• Management– Keep well, educate, pre...
Common Haematological Problems in ChildhoodDiagnosis• Early diagnosis reduces morbidity/mortality• Allows parent/family ed...
Common Haematological Problems in ChildhoodMind Set• Haemoglobinopathies are chronic disorders,like diabetes & obesity• Mu...
Common Haematological Problems in ChildhoodNormal Blood
Common Haematological Problems in ChildhoodSickle
Common Haematological Problems in ChildhoodHistory• Why?– Heterozygote 80-90% less likely to die of cerebral malariathan n...
Common Haematological Problems in ChildhoodDiagnosis• The earlier the better• Education to keep in good health• Teach pare...
Common Haematological Problems in ChildhoodScreening/Health:Primary School age• Middle cerebral artery velocity– >200cm/s ...
Common Haematological Problems in ChildhoodScreening/Health:Teenage• Ophthalmology review for retinopathy(earlier in HbSC)...
Common Haematological Problems in ChildhoodCrisis Management• Team to recognise that life threatening episodes candevelop ...
Common Haematological Problems in ChildhoodCrisis Prevention• Hydroxycarbamide (hydroxyurea)– Decrease mortality from ches...
Common Haematological Problems in ChildhoodFuture Progress• Historically sepsis, chest crisis and strokewere the biggest k...
Common Haematological Problems in ChildhoodStandards and Guidelines• NHS standards published 2006 for sickle cell
Common Haematological Problems in ChildhoodQuestions?
Common Haematological Problems in ChildhoodCauses of Anaemia• ↑ Destruction– Red cell – Hb, Membrane, Enzyme– Circulation ...
Common Haematological Problems in ChildhoodIron Deficiency• RBC ↓• MCV ↓• MCH ↓• RDW ↑ ↑• Check ferritin and CRP (acute ph...
Common Haematological Problems in ChildhoodB12/Folate• RBC ↓• MCV ↑• MCH ↓• RDW ↑• (Beware of B12 in thals)• Film – hyper-...
Common Haematological Problems in ChildhoodThal Indices• RBC ↑• MCV ↓ ↓ (<72)• MCH ↓ ↓ (<25)• RDW Normal (unless Fe defn)•...
Common Haematological Problems in ChildhoodHb SA (trait)Hb SSSickleSolubilitytest
Common Haematological Problems in ChildhoodHPLC (Biorad Variant)A + S A + CS + CA + O-Arab
Common Haematological Problems in ChildhoodHb S/beta 0• Sickling phenotype• Raised Hb A2– NB glycosylated HbS has same ret...
Common Haematological Problems in ChildhoodOther Hb’opathy• Hb CC (not sickling)– Hb C trait usually normal– Anaemia, micr...
Common Haematological Problems in ChildhoodOther Hb’opathy• Hb D – punjab– Trait normal– Homozygote – Hb 9-10 with thal in...
Common Haematological Problems in ChildhoodThal Major• 6/12 with severe anaemia, splenomegally• Film shows nucleated red c...
Common Haematological Problems in Childhood
Common Haematological Problems in ChildhoodMembrane• HS (white+spleen+J) and HE (black)• More severe in neonate• HExHS = H...
Common Haematological Problems in ChildhoodEnzyme• Beware “Favism”– Mediterranean child very anaemic and haemoglobinuria• ...
Common Haematological Problems in ChildhoodG6PD defn5’pyrimidine etcPKTriose phosphateisomeraseG6PD defn
Common Haematological Problems in ChildhoodDiagnostic Pathway - Child• Hx and exam• Screen– FBC for indices with retics an...
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CU common haematological problems in childhood

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CU common haematological problems in childhood

  1. 1. Common Haematological Problems in ChildhoodPhilip ConnorPaediatric HaematologyChildren’s Hospital for Wales, CardiffSickle Cell
  2. 2. Common Haematological Problems in ChildhoodObjectives Of Paediatric Team• (Diagnosis)• Management– Keep well, educate, prevent complications– Look for complications– Treat complications– (Cure disease)– Reach adult age in as good a state of health as possible• Growth, development & organ function– Transition into adult care
  3. 3. Common Haematological Problems in ChildhoodDiagnosis• Early diagnosis reduces morbidity/mortality• Allows parent/family education before “crisispoint” reached• Allows medical team to plan treatmentstrategy• Different screening strategies possible
  4. 4. Common Haematological Problems in ChildhoodMind Set• Haemoglobinopathies are chronic disorders,like diabetes & obesity• Multidisciplinary team approach addresseslargest number of patient issues
  5. 5. Common Haematological Problems in ChildhoodNormal Blood
  6. 6. Common Haematological Problems in ChildhoodSickle
  7. 7. Common Haematological Problems in ChildhoodHistory• Why?– Heterozygote 80-90% less likely to die of cerebral malariathan non-carrier• Life expectancy for sicklers (time for 50% ofnewborns to die) is 20’s in under developedcountries, 25% dead by 2ndyear• Natural history is for high mortality in childhoodunless managed appropriately• Life expectancy for in USA is 42 – 48 years– European Haemoglobinopathy registry will give estimatefor UK
  8. 8. Common Haematological Problems in ChildhoodDiagnosis• The earlier the better• Education to keep in good health• Teach parents how to feel for a spleen• Vaccination – Prevenar now universal• Start penicillin (Buchanan et al, 1982)• Start folate
  9. 9. Common Haematological Problems in ChildhoodScreening/Health:Primary School age• Middle cerebral artery velocity– >200cm/s associated with stroke– Transfusion programme (Adams et al, 1998)• Consider MRI– SITT study• 5 yearly pneumoccocal booster• Yearly flu vaccination• Asthma• Enuresis• Growth• Look for iron overload in transfused patients
  10. 10. Common Haematological Problems in ChildhoodScreening/Health:Teenage• Ophthalmology review for retinopathy(earlier in HbSC)• Cardiology review for pulmonaryhypertension• Monitor creatinine/proteinuria for sicklenephropathy• Transition into adult care
  11. 11. Common Haematological Problems in ChildhoodCrisis Management• Team to recognise that life threatening episodes candevelop rapidly• Specific protocols for the typical crises of sickle cell– Painful – now NICE guidance on this (Guideline 143)– Chest– Sequestration• Splenic, hepatic, (mesenteric)– Stroke– Priapism• How to treat infection– Massive overwhelming sepsis
  12. 12. Common Haematological Problems in ChildhoodCrisis Prevention• Hydroxycarbamide (hydroxyurea)– Decrease mortality from chest crisis– Reduces the incidence of chest crisis– Prolongs life– Reduces painful crises– Charache et al, 1992, 1995, 1996• Transfusion for stroke prevention (primaryand secondary)• ?Transfusion for cognitive decline
  13. 13. Common Haematological Problems in ChildhoodFuture Progress• Historically sepsis, chest crisis and strokewere the biggest killers– As survival prolongs, new problems occurring– Pulmonary hypertension• 40% mortality at 40 months• Present in 1:3 adults– Sickle nephropathy• Could it be prevented?• HU or transfusion
  14. 14. Common Haematological Problems in ChildhoodStandards and Guidelines• NHS standards published 2006 for sickle cell
  15. 15. Common Haematological Problems in ChildhoodQuestions?
  16. 16. Common Haematological Problems in ChildhoodCauses of Anaemia• ↑ Destruction– Red cell – Hb, Membrane, Enzyme– Circulation – DAT + (Evans), Bacteria, MAHA (HUS/TTP)– Bleeding• ↓ Production– Haematinics (= B12/folate/iron)– Immune – AIHA, idiopathic aplasia, drug, marrow failure syns, TEC– Infiltration– Infection – B19 in haemolytic anaemia – HbSS & HS– Alcohol/drugs/Lead (basophilic stippling and CDA see picture)– (osteopet/fibrotic)
  17. 17. Common Haematological Problems in ChildhoodIron Deficiency• RBC ↓• MCV ↓• MCH ↓• RDW ↑ ↑• Check ferritin and CRP (acute phase response)• Film may show hyper-segmented neutrophils
  18. 18. Common Haematological Problems in ChildhoodB12/Folate• RBC ↓• MCV ↑• MCH ↓• RDW ↑• (Beware of B12 in thals)• Film – hyper-segmented neutrophils• B12/folate assay– Diet, malabsorbtion, specific antibodies
  19. 19. Common Haematological Problems in ChildhoodThal Indices• RBC ↑• MCV ↓ ↓ (<72)• MCH ↓ ↓ (<25)• RDW Normal (unless Fe defn)• Check HPLC for Hb A2 – increased unlessFe defn in Beta thal• Check ferritin and CRPnormal trait
  20. 20. Common Haematological Problems in ChildhoodHb SA (trait)Hb SSSickleSolubilitytest
  21. 21. Common Haematological Problems in ChildhoodHPLC (Biorad Variant)A + S A + CS + CA + O-Arab
  22. 22. Common Haematological Problems in ChildhoodHb S/beta 0• Sickling phenotype• Raised Hb A2– NB glycosylated HbS has same retention time as A2on HPLC, so have to use column• Targets +++ on film
  23. 23. Common Haematological Problems in ChildhoodOther Hb’opathy• Hb CC (not sickling)– Hb C trait usually normal– Anaemia, microcytic, MCHC ↑• Hb C/beta thal– Thal intermedia picture (thal indices, moderate anaemia –may need Tx/splenectomy)• Hb EE– Trait usually normal– Thal indices• Hb E/beta thal– Hb 2.5 – 13g/dl ie mod/severe thalEEC/beta0CC
  24. 24. Common Haematological Problems in ChildhoodOther Hb’opathy• Hb D – punjab– Trait normal– Homozygote – Hb 9-10 with thal indices• Hb O-arab– Homozygote – mild anaemia with thal indices• Lots more – look on OMIM• Above are all common and interact badlywith Hb S
  25. 25. Common Haematological Problems in ChildhoodThal Major• 6/12 with severe anaemia, splenomegally• Film shows nucleated red cells BUT retics arelow• MCV 50-60, MCHC 12-18• Hb F and A2 usually the only haemoglobins(Hb A can be present in beta0/beta+ cases)• Parents beta thal trait• Mutation analysis/BM (perhaps)
  26. 26. Common Haematological Problems in Childhood
  27. 27. Common Haematological Problems in ChildhoodMembrane• HS (white+spleen+J) and HE (black)• More severe in neonate• HExHS = HPP (HSxHS=RIP,HExHE=RIP)– Splenectomy• Stomatocytosis/xerosytosis – rare– VTE if splenectomis
  28. 28. Common Haematological Problems in ChildhoodEnzyme• Beware “Favism”– Mediterranean child very anaemic and haemoglobinuria• Morphology of blood film a “classic”– Blister cells, Heinz bodies, spherocytes• Transfuse and check G6PD later• Northern Europeans– 5’pyrimidine nucleotidase def (basophilic stippling)– PK (sputnik cells)
  29. 29. Common Haematological Problems in ChildhoodG6PD defn5’pyrimidine etcPKTriose phosphateisomeraseG6PD defn
  30. 30. Common Haematological Problems in ChildhoodDiagnostic Pathway - Child• Hx and exam• Screen– FBC for indices with retics and Film• Confirmatory– DAT, G6PD, Hb HPLC, Haematinics– Bilirubin (direct/indirect), LDH,– BM, (lead)• Additional– RBC enzyme studies, membrane protein studies (m-eosindye binding flow), Hb variant sequencing

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