Approach to Pale Child

8/11/2019 Approach to Pale Child

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Anemia is defined as a hemoglobinconcentration or red blood cell (RBC) massless than the 5th percentile for age.


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MECHANISM / PHYSIOLOGICCLASSIFICATION

Reduced red cellproduction Nutritional : Folic acid,

B12, Ferum, Ascorbicacid Mechanical :Malignancy

Dyserythropoiesis Blood loss (acute and

chronic)

Blood destruction HemoglobinopathiesStructural : SickleSynthetic : Thalassemia

RBC enzyme defects :G6PDMembrane defects :Hereditary spherocytosisImmune mechanism : auto oralloInfectious agentsChemical : Heavy metal,oxidantPhysical trauma : thermalinjury, microangiopathy


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MORPHOLOGIC CLASSIFICATION


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Microcytic Normocytic Macrocytic

Low retic High retic

Iron deficiency Bone marrowinfiltration

Acute blood loss Folic aciddeficiency

Thalassaemia trait Transient erthroblastopenia inchildhood

Hemolysis Extrinsic

-Antibody mediated- Fragmentation : DIC, HUS,prosthetic heart valve

Intrinsic- Membrane disorders:Spherocytosis-Enzyme deficiencies: G6PD- Hemoglobin disorder: Sickle cell

Vitamin B12deficiency

Chronic disease Chronic disease Hypothyroidism

Sideroblasticanemia

Aplastic anemia Liver disease

Lead poisoning


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IRON DEFICIENCY

Causes : Inadequate intake Malabsorption (Worminfestation)Chronic blood loss

Increase demand(Prematurity, Growth)

Clinical features PicaTired easilyFeed more slowly (infants)

Investigation :Low MCH, MCVLow serum ferritin

ManagementDietary adviceSupplement with oraliron

failure to respondNon complianceInadequate iron dosage

Investigate other causes- Malabsorption ( Coeliac

disease)- Chronic blood loss ( Meckels

diverticulum)


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HEMOLYTIC ANEMIA Definition: Reduced red

cell lifespanDue to increased red

cell destruction

Circulation liver /(intravascular) spleen

(extravascular)# Anemia when bone marrow is no

longer able to compensate forthe premature destruction of redcells.

Increased red cellbreakdown causes:

Reticuloendothelial hyperplasia

(hepatomegaly andsplenomegaly)

anemia

Elevated

unconjugatedbilirubin

Excess urinaryurobilinogen


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Diagnostic clues : Raised reticulocyte countAbnormal appearance ofred cells on blood filmPositive directantiglobulin test (only ifan immune cause)Increased erythropoiesisin bone marrow.

Intrinsic abnormalities ofred blood cell:

(a) Red cell membranedisorders (hereditary

spherocytosis)(b) Red cell enzymedisorders (glucose 6phosphatedehydrogenase

deficiency)(c) Haemoglobinopathies

(Beta thalassaemia,sickle cell disease)


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MCV

RBC

Mentzer index

-13 suggests

Iron deficiency


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HEREDITARY SPHEROCYTOSIS Autosomal dominant inheritance 25% : new mutations Inherited, intrinsic and membrane

defect RBCs- spheroidal , less deformable

and vulnerable to splenicdestruction

Clinical features- Asymptomatic- Jaundice - intermittent

- Anemia- Mild to moderate splenomegaly- Aplastic crisis (associated with

parvovirus B19 infection)- Gallstones (due to increased

bilirubin excretion)

Diagnosis- Reticulocytosis, Elevated

MCHC- Blood film- Osmotic fragility increased,

dye binding test

- Normal direct antibody test

Management- Folic acid 1mg day- Splenectomy (if poor growth /

troublesome symptoms oranemia)- Cholecystectomy

(symptomatic gallstones)


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G6PD DEFICIENCY Rate limiting enzyme in the

pentose phosphate pathway Preventing oxidative damage

to red cells - Susceptible tooxidant induced hemolysis

X linked (predominantlyaffects male) Clinical features:- Neonatal jaundice- Acute hemolysis precipitated

by infections, drugs, favabeans, naphthalene- Intravascular hemolysis

associated with fever, malasie,dark urine

Diagnosis : measure G6PDactivity

Management : educateparents on list of drugs,chemical and food to avoid.


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HAEMOGLOBINOPATHIES

SICKLE CELL DISEASE- HbS inherited- HbS forms as a result of a

point mutation in codonof -globin gene (changein glutamine to valine)

- Forms:(a) Sickle cell anemia(b) SC disease(c) Sickle -Thalassaemia

Pathogenesis- In HbSS, the Hb molecule

becomes deformed(insoluble) in thedeoxygenated state


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Sickle cell disease: Clinical features Anemia Infection Painful crises Splenomegaly Long term problems- Short stature and delayed

puberty- Adenotonsillar hypertrophy- Cardiac enlargement /

Heart failure- Renal dysfunction- Pigment gallstones


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Sickle cell disease: Treatment

Treatment is directed toward prevention ofcomplication and optimization of health

Immunized with conjugate pneumococcalvaccine penicillin prophylaxis 125 mg twicedaily (2 months), increase to 250 mg twice aday at 3 years until 5 years old

Folate supplementation


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-Thalassaemia major is an autosomal recessive

inheritance of mutations ineach of two -globin genes

Clinical features:- Severe anaemia and

jaundice from 3-6 monthsof age

- Failure to thrive / growthfailure

- Extramedullaryhaemopoiesis causes bonemarrow expansion >classical facies withmaxillary overgrowth, skullbossing

Management:- regular maintenance

blood transfusion andiron chelation therapy

(transfusion dependentthalassaemia


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APPROACH

symptoms

Irritability Pica Jaundice SOB Palpitations

examinations

Jaundice Tachypnea Tachycardia Heart failure

(severe or acute)

Chronic anemia(glossitis, flowmurmur, growthdelay).


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Transfusion target- Pre transfusion Hb: 9-10

g/dL- Post transfusion Hb: 13.5-

15.5 g/dL- Mean Hb 12-12.5g/dL Transfusion interval 4

monthly ( Hb decline 1g/dL/week)

Volume: 15-20 ml/kgPacked red cells

Iron chelation therapy- Desferrioxamine (DFO)-

desferal, Deferiprone(DFP), Deferasirox (DFX) -Exjade


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AUTOIMMUNE HEMOLYTIC DISEASE(AIHA)

Characterised by theproduction of antibodiesdirected against RBC.

Follows viral infection orvaccination more often in

children Secondary causes:

Immunodeficiency,malignancy, SLE, and othertypes of collagen vasculardiseases.

Acute self limited illness Good response to short term

steroid therapy in 80% ofpatients.

Can be insidious with

tendency to become chronic.

Investigations Reticulocytosis Elevations in levels of lactate

dehydrogenase and aspartateaminotransferase refl ect therelease of intraerythrocyteenzymes

direct antiglobulin test(Coombs test), whichidentifies antibodies andcomplement components onthe surface of circulatingerythrocytes.


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Treatment depends onseverity

Optimal therapy depends onthe clinical picture, as well asthe form of AIHA.

If the autoantibodiesare coldreactive, for example, thepatient should be kept warmwith avoidance of all coldstimuli.

Therapy for acute warm-reactive AIHA in childrenshould begin with closeobservation, judicious use oferythrocyte transfusions, andadministration ofcorticosteroids.

Additional therapyincludes theadministration ofintravenousimmunoglobulin (IVIG),plasma (exchange)transfusion in selectedsettings, and morerecently, targeted therapywith rituximab.


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PAROXYSMAL NOCTURNALHEMOGLOBINURIA

Ongoing intravascularhemolysis with intermittentepisodes of dark urine(hemoglobinuria)

common on awakening inthe morning Intracorpuscular defect

because hemolysis resultfrom increased sensitivity of

patients erythrocytes tophysiologic complementmediated lysis


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LEUKAEMIA Acute lymphoblastic

leukaemia (ALL) accounts for80% of leukaemia in children.

Most of the remainder areacute myeloid/acute non-

lymphocytic (AML/ANLL)leukaemia. Chronic myeloid leukaemia

and other myeloproliferativedisorders are rare.

Clinical symptoms and signsresult from infiltration of thebone marrow or other organswith leukaemic blast cells

In most children, leukaemiapresents insidiously overseveral weeksThe blood count is abnormal,with low haemoglobin and

thrombocytopenia andevidence of circulating blastcells.Bone marrow examination isessential to confirm thediagnosis and to identify

immunological andcytogenetic characteristicswhich give useful prognosticinformation.


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VITAMIN B12 DEFICIENCY Causes

DietLack of intrinsic factor (IF) congenitalpernicious anemia : autosomal recessivedisorder due to an inability to secretegastric IF or secrete abnormal IFImpaired vitamin B12 absorption

regional enteritis or neonatal necrotisingenterocolitisAbsence of vitamin B12 transportprotein

Clinical manifestationWeakness, Fatigue, irritabilityFailure to thrivePallor, glossitisVomiting, diarrheaNeurologic : paresthesias, hypotonia,developmental delay

Investigations Serum vitamin B 12 less than 100

pg/mL Serum LDH increased (ineffective

erythropoiesis) Excretion of methylmalonic acid in

the urine (0-3.5 mg/24 hours)Treatment Physiologic requirement : 1-5 g /

day If evidence of neurologic involvement

1 mg should be injectedintramuscularly daily for at least2week.

Maintenance monthly IMadministration 1 mg


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FOLIC ACID DEFICIENCY Causes

Inadequate folate intakeDecreased folate absorptionCongenital or acquiredabnormalities in folatemetabolism

Clinical featuresAnemiaIrritableFail to gain weight adequatelyChronic diarrheaHemorrhages fromthrombocytopenia inadvanced cases

Normal serum folic acid 5-20ng/mL

LDH increased Treatment:- Folic acid 0.5-1 mg


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REFERENCES Evaluation of anemia by Jennifer et al, American Family

Physician, June 15 2010 Volume 81,Number 12. Paediatric protocol third edition Nathan and Oskis hematology of infancy and

childhood 7 th edition Autoimmune hemolytic anemia in children and

adolescents by Sarper et al, Turk J Hematol2011;28:198-205.

Illustrated textbook of Paediatrics, third edition Nelson textbook of paediatrics, 19 th edition

Approach to Pale Child

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