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13.11.2060 Appraoch to a child with anaemia Dr. Pushpa Raj Sharma Professor of Child Health Institute of Medicine.

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Presentation on theme: "13.11.2060 Appraoch to a child with anaemia Dr. Pushpa Raj Sharma Professor of Child Health Institute of Medicine."— Presentation transcript:

1 Appraoch to a child with anaemia Dr. Pushpa Raj Sharma Professor of Child Health Institute of Medicine

2 Definition of anaemia The condition of having too few red blood cells. It is a reduction of the red cell volume or hemoglobin concentration below -2SD for age, race and sex. Microscopic: normocytic,microcytic,normochromic macrocytic or specific abnormalities (spherocyte,sickle cell,target cell)

3 Case Nine months old “Rai” female, single child Recurrent fever Mass in abdomen with pallor No history of rash, bleeding, persistent diarrhoea, drug, jaundice, pica, Had blood transfusion 2 days back No consanguity of marriage No family history of gall stones, jaundice. No loss of weight, exclusive breast feeding

4 Summary of examination finding 9 Kg. Mild pallor No purpuric rash, lymphadenopathy, abnormal facies, Gross spleenomegaly

5 Diagnostic Approach-History Age : Iron def rare without blood loss before 6mo in term infants. Family Hist & Genetics: (1)X-linked: G6PD def (2)Aut dominant: Spherocytosis (3)Aut recessive: Sickle cell,Fanconi anemia (4)Family member with early age of cholecystectomy/splenectomy (5)Ethnicity: Thalassemia; G6PD def

6 Diagnostic Approach-History Diarrhoea: -Malabsorption of VitB12/E/Fe. Inflammatory bowel disease and anemia of chronic disease with or without blood loss. -Milk protein intolerance induced blood loss -Intestinal resection: Vit B12 def Infection: - Giardia: iron malabsorption -Intestinal bacterial overgrowth: VitB12def -EBV,CMV,Parvovirus: BM suppression -Mycoplasma,Malaria: hemolysis -Hepatitis: aplastic anaemia -Endocarditis, HIV

7 Diagnostic Approach-History Nutrition: (1)Cows milk diet:iron def. (2)Strict vegetarian:Vit B12 def. (3)Goats milk: Folate def. (4)Pica: Plumbism,Iron def. (5)Cholestasis,malabsorption:VitE def Drugs: (1)G6PD:oxidants(sulfa, primaquine, henna) (2)Immune mediated hemolysis (penicillin) (3)Bone marrow suppression (chemotherapy) (4)Phenytoin increase folate requirement

8 Physical exam reveals presence and potential causes of anaemia Fever-acute infection,intravascular disease,collagen vascular disease Jaundice suggests hemolysis Petechia&Purpura—bleeding tendency Hypertension&oedema-renal disease Hepatosplenomegaly and lymphadenopathy— infiltrative disease Growth failure or poor wt. gain—Anemia of chronic disease or organ failure Examine stool for blood; urine for hemoglobinuria

9 Physical Findings in Anaemia Skin:Hyperpigmentation,café au lait spots- Fanconi anemia -Jaundice-hemolysis -Petechia&purpura- BMinfiltration, autoimmune hemolysis&thrombocytopenia -Erythematous rash- Parvovirus,EBvirus -Butterfly rash-SLE; Vitiligo-VitB12def Head:Frontal bossing-Thalassemia major -Microcephaly-Fanconi anemia

10 Physical Findings in Anaemia –Eyes: Microphthalmia-Fanconi anemia -Retinopathy-Sickle cell disease -Optic atrophy-Osteopetrosis -KF ring-Wilson disease –Ears: Deafness-Osteopetrosis –Mouth: Glossitis-B12 def,iron def -Angular stomatitis-Iron def -Pigmentation-Peutz Jeghers syndrome -Telangiectasia-Osler Weber Rendu syndrome

11 Physical Findings in Anaemia Chest: Cardiac murmur- Endocarditis,prosthetic valve hemolysis Abdomen: Hepatomegaly-hemolysis, infiltrative tumour,chronic disease, hemangioma,cholecystitis -Splenomegaly -hemolysis,sickle cell disease,thalassemia,malaria,EBvirus, portal hypertension -Kidney anomaly-pelvic/absent kidney

12 Physical Findings in Anaemia Extremities:Absent thumb-Fanconi anemia -Spoon nails-Iron deficiency -Dystrophic nails-Dyskeratosis congenita CNS-Irritable,apathy-Iron def. -Peripheral neuropathy-lead poisoning -Ataxia,post.column signs-Vit B12def - Stroke-Sickle cell anemia Short stature-Fanconi anemia, Malnutrition

13 COMPLETE BLOOD COUNT Hb Conc (g/dl) Hematocrit(PCV) MCV (fl) MCH (pg) MCHC (detects red cell dehydration) RBC Count (…x10 ) WbC Count (…x10 ) Platelet Count (…x10 ) Reticulocyte Count ( % )

14 AGEHgb Mean/ (-2SD) HCT% Mean/ (-2SD) MCV Mean/ (-2SD) Newborn16.5 (13.5)51 (42)108 (96) 1 Month13.9 (10.7)44 (33)101 (91) 2 Months11.2 (9.4)35 (28)95 (84) 6 Months12.6 (11.0)36 (31)76 (68) > 6 Months12.5 (11.0)36 (33) 81 (70+ age per yr) Adult Male Female 15.5 (13.5) 14.0 (12.0) 47 (40) 41 (36) 90 (80) Normal values Harriet Lane Handbook, The John Hopkins Hospital,15th edition

15 Reticulocyte Production Index RPI corrects the retics for the degree of anaemia RPI indicates whether bone marrow is responding appropriately to anaemia RPI= Retic x Hb(o) x 0.5 divided by Hb(n) RPI > 3 increased production (hemolysis or blood loss) RPI < 2 decreased production or ineffective production for the degree of anaemia Reticulocytopenia—acute onset of anaemia, antibody mediated destruction, BMdisease

16 AETIOLOGY (1) Inadequate response RPI < 2 A. Hypochromic microcyctic B. Normochromic Normocytic C. Macrocytic (2)Adequate response RPI > 3 R/O blood loss---Includes Hemolytic disorders

17 Microcytic Anaemia –TEST Iron def ThalMin –S.Iron - low normal –S.Ferritin - low N/H –Marrow iron - low N/H –Hb A2or F - N H=Bthal – N=Athal –MCV ÷ RBC - >13 < 13 –Sickle/B-thal – Hb S > Hb A –Absence of microcytosis in both parents excludes B-thal or Sickle/B-thal but not A-thal

18 Macrocytic anaemia Vit.B12 def.- (1) pernicious anaemia (2) ileal resection (3) abnomal intestinal transport Folate def.- (1) malnutrition (2) malabsorption (3) chronic hemolysis (4)drugs - phenytoin, sulfa Hypothyroidism Chronic liver disease Marrow failure-Fanconi anaemia,Aplastic A

19 Haemolytic anaemia Hemoglobinopathy– Hb SS,SC,S-B thal Enzymopathy--G6PD def, PK def Membranopathy—Hereditary spherocytosis, elliptocytosis Extrinsic factors— DIC,HUS,Abetalipoproteinemia, Wilsons disease,Vit E def Immune hemolytic anaemia- Autoimmune,Isoimmune,Drug induced

20 THALASSEMIA-Lab Thal trait:Hb 9-10 g/dl HbH disease:Hb 6-7 g/dl Thal intermedia:Hb 7-8 g/dl Thal major:Hb less than 5 g/dl Peripheral smear:hypochromic,microcytic, anisopoikilocytosis,target cells Hb electrophoresis: (1)Thal trait-HbF 1- 5%, HbA %,rest HbA (2)Thal major- HbF %,HbA2 2-7%,HbA 0- 60%

21 Congenital (Blackfan-Diamond) Acquired (Transient Erythroblastopenia of Childhood-TEC) - 1 st year of life - congenital anomalies - defective erythroid stem cell - high MCV - treatment: prednisone blood transfusion - life long - healthy child - mean age dx: 25 mo. - serum inhibitor of erythropoiesis (? virus) - normocytic - treatment: transfusion PRBC’s (no steroids) - recovery is rule Pure Red Cell Aplasia: Reticulocytopenia + Absent marrow erythroid precursors.

22 Aplastic anaemia Severe reduction in platelets and granulocyte series

23 Anaemia of chronic disease Normal morphology Chronic inflammatory disease— (1)infection (2)collagen vascular disease (3)inflammatory bowel disease Recent blood loss Malignancy/Marrow infiltration Chronic renal failure Transient erythroblastopenia of chidhood Marrow aplasia/hypoplasia HIV infection Hemophagocytic syndrome

24 Haemolytic anaemia Polychromasia (Wright-Geimsa)

25 Leukaemias Blast cells

26 Laboratory Evaluation Hematology:Complete Blood Count, Retic count,Peripheral smear,ESR,G6PD Sickling(+/-inf),Hb electrophoresis,Group,DCT, Osmotic fragility test,BMaspiration Biochemistry:LFT,UE,RFT,S.Ferrtin, S.Haptoglobin,Iron,VitB12,Folate,Ceruloplasmin Serology:Heterophil antibody,ANA,Viral t Urinalysis,microscopy,culture/sensitivity Stool exam.for ova,parasites,occult blood Endoscopy: upper and lower bowel Imaging:US Abdomen,Skeletal radiographs, Tc pertechnetate scan for Meckels diverticulum Tissue biopsy:skin,lymph node,liver

27 Nine months old female, single child Recurrent fever Mass in abdomen with pallor No rash, bleeding, persistent diarrhoea, drug Had blood transfusion 2 days back No consanguity of marriage No loss of weight, exclusive breast feeding 9 Kg. Mild pallor Hb:9.4 g% No purpuric rash, lymphadenopathy, abnormal facies, Gross spleenomegaly Blood report: TLC: 9,600/ cmm: P: 44%: L: 56%; Platelets: /cmm Anisocytosis, hypochromic, reticulocyte 0.8%, occasional NRC.

28 The diagnosis Reticulocyte production index = Retic x Hb(o) x 0.5 divided by Hb(n) = 0.3 RPI < 2 decreased production or ineffective production for the degree of anaemia –Metabolic –Malignancy –Further work up: –Bone marrow

29 Bone marrow report Normal values Cell Type Range %Myeloblasts 0-2 Promyelocytes 2-5 Myelocytes (neutrophilic)9-16 Metamyelocytes 7-23 Band forms 8-15 Neutrophils 4-10 Myelocytes (eosinophilic)0-2 Band 0-2 Mature 0-3 Monocytes/macrophages0-3 Basophils 0-1 Mast cell 0-2 Plasma cells 3-6 This patient Cell Type% Blast10 Promyelocyte1.5 Myelocyte12 Metamyelocyte18 Neutrophils31

30 Final diagnosis Malignancy –Juvenile Chronic Myelogenous Leukemia

31 The commonest cause Iron def. is common in children 9mo-3yr Iron def. anemia in a child over 3yr should prompt consideration of occult blood loss. Infants less than 6months generally do not develop iron def.; the exception to this rule is premature infants,who are at risk of iron def.at 4mo, if iron supplementation is not given.

32 Iron deficiency Anemia –Dietary iron def is the usual cause –Manifestations of anemia –CNS abnormalities:apathy,irritability,poor conc,cognitive deficits –Poor muscle endurance –GIT dysfunction –Impaired WBC and T-cell function

33 Iron deficiency: hypochromic anaemia Iron def.-(1)chronic blood loss (2)poor diet (3)cows milk protein intolerance Chronic inflammatory disease

34 Iron Deficiency Anemia Acute and Chronic Inflammation Red Cell Indices Blood Smear Serum Iron TIBC Transferrin Saturation S. Ferritin B.M. Iron Stores  MCV,  MCH Microcytic, hypochromic Decreased Increased Decrease (<7%) Decreased (<12 mg/ml) MCV: N or , MCHC: N or  Normocytic/microcytic Decreased Normal or decreased Decreased (<16%) Normal or increased Differential Features of Iron Deficiency vs Acute and Chronic Inflammation

35 Iron deficiency Anemia Treatment:Response to oral iron includes 24-48hr-subjective improvement inCNS 48-72hr-reticulocytosis 4-30days-increase in Hb 1-3 mo-repletion of iron stores Therapeutic dose:3-6 mg/Kg/day of elemental iron.---Induces an increase in Hb of g/dl per day or 1%/day rise in hematocrit. Failure of response after 2 weeks of oral iron requires reevaluation for ongoing blood losses,infection,poor compliance or other causes of microcytic anaemia.


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