EVALUATION OF A CHILD WITH ANAEMIA
Dr.S.Krishnapradeep
Anaemia in children- why is it important?
• One of the most common global health problems
• Prevalence in Sri Lankan children < 5yrs – 15.1%
• Affects child’s growth and wellbeing
• Leads to poor cognitive and motor development
• Can be life threatening
• It is treatable
Ref : WHO, Haemoglobin concentrations for the
diagnosis of anaemia and assessment of severity 2011
Global prevalence of anaemia in preschool children
What is anaemia?
• Hb below or RBC volume below the normal range
• Varies with age, sex and race
Neonates have higher Hb
Males have higher Hb
White American children > African American children
Age group Haemoglobin cut-off (g/dl)
6 months – 5 years 11.0
5 – 12 years 11.5
Iron metabolism
• Iron is absorbed in duodenum and
upper jejunum.
• The protein DMT1, facilitates the uptake of
non-haem Fe2+ from the intestinal lumen.
• Fe3+ in the intestinal lumen reduced to Fe2+
by cytochrome B reductase (DcytB)
• The iron within enterocytes can be stored
as ferritin, or transferred into the bloodstream
• Once in the blood, iron is bound to the
transferrin, transported to bone marrow
for erythropoiesis.
• Some iron is taken up by macrophages in
the reticuloendothelial system as a storage
Iron metabolism…….
• Absorption of Iron is regulated by
hepcidin which is expressed by the liver
• Hepcidin functions by binding
to ferroportin, resulting in its
degradation and preventing iron from
leaving the cell
• Hepcidin also functions by inhibiting the
DMT1 gene, thus reducing iron
absorption
Iron in the body
Features of Hb
Oxygen dissociation curve HbF vs HbA Hb changes with age
Physiological anaemia of infancy
• Normal term newborns have a higher Hb and large RBC
• From 1st week to 8 weeks progressive decline of Hb
• Order of events:
After onset of respiration more oxygen available
Switch from high affinity HbF to low affinity HbA
As a response downregulation of Erythropoietin
Removal of aged RBCs, but no replacement
Hb falls up to 10 g/dL 8-12 weeks
Mild haemolytic disease of newborn can contribute
Causes of anaemia
• Impaired red cell production
• Increased red cell destruction
• Blood loss
History
• Symptoms develop only when Hb< 8, usually accidental detection
• Symptoms of anaemia – lethargy, irritability, poor feeding, exercise
intolerance
• Onset and duration
• Bleeding manifestations
• Urine colour – haemolysis, haemoglobinuria
• Past history –
Review previous FBC reports
Underlying medical conditions or chronic diseases
History ……..
• Birth – maturity, neonatal hyperbilirubinemia
• Developmental history
• Dietary history – nutritional deficiencies
• Drug history – any offending drugs
• Family history – anaemia, gall stones, splenomegaly
• Social history – travel history
Physical features
Physical examination
• Pallor
• Icterus
• Growth parameters
• Facial appearance
• Skin manifestations – hyperpigmentation, Café-au-lait patch,
petechiae/purpura
• Thumb abnormalities
• Nutritional deficiencies – angular stomatitis, glossitis
Physical examination……..
• Hepatomegaly
• Splenomegaly
• Lymphadenopathy
• Bone changes
• Murmur
• Heart failure features
Laboratory studies
• Hb, Hct, red cell indices
• Differential counts
• Platelet count
• Blood picture
• Serum Bilirubin
• Reticulocyte count
RBC morphology
Diagnostic approach
• Other cell line involvement
• MCV, MCH
• Retic count
• Organomeglay
Diagnostic approach – Flowchart 1
Anaemia
(With other cell line involvement)
Anaemia + Anaemia +
Pancytopenia
Leukocytosis Thrombocytopenia
Aplastic anaemia Leukaemia HUS
Fanconi anaemia Infection TTP
Leukaemia
DIC
Hypersplenism
Evans syndrome
Infection
Diagnostic approach – Flowchart 2
Anaemia
(Without other cell line
involvement)
Microcytic Normocytic Macrocytic
Anaemia Anaemia Anaemia
Diagnostic approach – Microcytic anaemia
Microcytic
Anaemia
With No
Hepatosplenomegaly Hepatosplenomegaly
Beta-thalassaemia major Beta-Thalassaemia minor
HbE beta-thalassaemia Iron deficiency anaemia
Haemoglobin H disease Iron refractory iron deficiency anaemia
Congenital sideroblastic anaemia Lead poisoning
Diagnostic approach – Normocytic Anaemia
Normocytic
Anaemia
Splenomegaly+/- No
hepatomegaly Hepatosplenomegaly
Reticulocytosis No reticulocytosis Reticulocytosis No reticulocytosis
Here. spherocytosis CDA II G6PD Deficiency TEC
Here. elliptocytosis AIHA Chronic disease
Pyruvate kinase Def.
AIHA
Diagnostic approach – Macrocytic Anaemia
Macrocytic
Anaemia
With No
Hepatosplenomegaly Hepatosplenomegaly
CDA 1 and 3 Diamond Blackfan Anaemia
Hypothyroidism
Vitamin B12 and Folate Def.
Trisomy 21
Haemolytic anaemia
Hereditary spherocytosis
Membranopathies Hereditary elliptocytosis
G6PD deficiency
Cellular Enzymopathies Pyruvate kinase deficiency
Thalassaemia
Haemoglobinopathies Sickle cell disease
Haemolytic
anaemia Auto immune haemolytic
Immune-mediated anaemia
Extracellular Drugs/toxins
Microangiopathic HUS, TTP
haemolytic anaemia DIC
Iron deficiency anaemia
•Etiology:
Inadequate intake
Malabsorption
Blood loss
Etiology- Inadequate intake
• In term infants iron stores are sufficient up to 6-9 months
• Stores are depleted sooner in preterm and LBW infants
• Daily requirement of Iron in 1 year- 8 mg/day(10% will be absorbed)
• Iron can be absorbed from
Breast milk (low iron content but >50% of the iron is absorbed)
Infant formula (supplemented with iron)
Cows milk ( higher iron content but only 10% absorbed)
Complimentary feeding
Etiology- Inadequate intake…….
• Delayed cord clamping of umbilical cord improves iron status
• Vitamin C increases Iron absorption
• Consumption of tea
Etiology-Blood loss
• Occult GI bleeding
• Cows milk protein
• Infections with hook worm, Trichuris trichura, H.pylori infection
• Inflammatory bowel disease
• Coeliac disease
• Menstrual losses
• Recurrent epistaxis
Clinical presentation
• Usually asymptomatic
• Identified with routine FBC
• Pallor is most recognised clinical sign
• Non specific symptoms are commoner
• Associated with impaired neurocognitive function
• Increased risk of seizures, strokes, breath holding spells
• Picca, Pagophagia,Plumbism are known features
Stages of Iron depletion
Stages of Iron depletion…….
• Iron stores depletion- Low S.Ferritin
• Serum Iron levels reduced- TIBC increases, transferrin saturation
decreases
• Progression to Iron deficiency anaemia- Low Hb, MCV, RBC
count,MCHC, Increase in RDW
• Bone marrow staining is the most accurate method of diagnosing Iron
deficiency anaemia
Laboratory findings
• FBC- hypochromic microcytic anaemia, thrombocytosis, high RDW,
reduced RBC
• Blood picture
• Serum Ferritin
Management
• Dietary advise
• Supplementation
Treatment
Replenishing iron stores
• Blood transfusion- ? Is it necessary
Poor response- what are the reasons?
Response to Iron treatment
TIME AFTER IRON ADMINISTRATION RESPONSE
12-24 HOURS Replacement of intracellular iron enzymes, subjective
improvement, decreased irritability, increased appetite
36-48 HOURS Initial bone marrow response, erythroid hyperplasia
48-72 HOURS Reticulocytosis, peaking at 5-7 days
4-30 DAYS Increase in Hb level, Increase in MCV, Increase in Ferritin
1-3 MONTHS Repletion of stores
Macrocytic anaemia
• Where the red blood cells (RBCs) are larger than normal, with a MCV
>100 femtoliters.
• Condition result from various underlying causes that affect the
production and maturation of red blood cells
• Categorized into megaloblastic and non-megaloblastic , based on the
specific mechanisms and etiologies
Megaloblastic anaemia
• Group of disorders caused by impaired DNA synthesis
• RBC are larger than normal
• Maturational asynchrony between nucleus and cytoplasm leads to
delayed nuclear development
• Myeloid and platelet precursors are also affected
• Increased MCV, hyper segmented neutrophils
Folic acid deficiency- Etiology
• Inadequate folate intake
• Decreased folate absorption
• Congenital abnormalities in folate transport and metabolism
• Drug induced abnormalities in folate metabolism
Management
• Folic acid 0.5 mg-1 mg/day 4 weeks
• If a definite hematologic response has occurred maintenance therapy
with multivitamin (0.2mg folic acid)
Vitamin B12 deficiency- Etiology
• Inadequate Vitamin VB12 intake
• Impaired Vitamin B12 absorption
• Absence of Vitamin B12 transport
• Inborn errors of Cobalamin metabolism
Clinical manifestations
• Features of anaemia
• Glossitis, vomiting, diarrhea and icterus
• Parasthesia, sensory deficits, hypotonia, seizures, developmental
delay and regression, neuropsychiatric changes
Management
• Cyanocobalamine injections 1mg three times per week for two weeks
in patients without neurologic deficits.
• If neurologic deficits are present, injections should be given every
other day for up to three weeks or until further improvement is noted
Summary
• Anaemia is an important problem among children
• Based on the etiology anaemia can be due to impaired production,
destruction or loss
• History and examination is crucial for the diagnosis
• The FBC and BP are very useful investigations
• Management depends on the etiology and clinical condition
