ANEMIA IN

PEDIATRICS
• Anemia is defined as a hemoglobin level of less than the 5th
percentile for age
ANAEMIA
• Mechanisms
1. Red cell production – ineffective erythropoiesis ( iron deficiency
anaemia) or red cell aplasia
2. Hemolysis
3. Blood loss
ANAEMIA

History
-Diet (iron , folate, vitB12 intake, onset of hemolysis after certain foods
–e.g.,fava beans)
- family history (transfusion requirements of relatives, splenectomy,
gallblader disease)
- environmental exposures (lead poissoning)
- symptoms (headache, exertion dyspnea, fatigue, dizziness, weakness,
mood or sleep disturbances, tinnitis)
- melena, hematemesis, abdominal pain- chronic blood loss
Physical Examination

• Pallor • Peripheral edema

(skin, oral mucosa, • Splenomegaly
nail beds)
• Hepatomegaly
• Jaundice -hemolysis
• Glossitis
• tachycardia
• gingival pigmentation
• tachypnea
• Facial, extremity
• systolic ejection murmur examination
IRON DEFICIENCY ANAEMIA
Laboratory findings
• Red cell indices : Low MCV, Low MCH values
• Low serum Iron, High TIBC
• Low serum ferritin
Causes of Iron Deficiency Anaemia
• Chronic blood loss
• Increase iron demand – prematurity , growth
• Malabsorption
• Worm infestation
• Inadequate dietary intake
Treatment
1.Nutritional counselling
• If breast fed, maintain breastfeeding
• Use iron fortified cereals
2.Oral iron medication
• Give 6 mg/kg/day of elemental iron
• Continue for 6-8 weeks after haemoglobin level is restored
to normal
• Dose calculation depends on the elemental iron in the
preparation
• Syr FAC (Ferrous ammonium citrate): the content of
elemental iron per ml depends on the preparation available,
(usually 86 mg/5ml)
• Tab. Ferrous fumarate 200 mg has 65 mg of elemental iron
per tablet
Consider the following if failure to response
to oral iron:
• Non-compliance
• Inadequate iron dosage
• Unrecognized blood loss
• Impaired GI absorption
• Incorrect diagnosis
• Rare conditions e.g. IRIDA (Iron Resistant Iron Deficiency
Anaemia- these patients are resistant to oral/im iron, may
partially respond to parenteral iron)
Blood transfusion
• Generally NOT required in chronic Iron Deficiency Anaemia
unless patient is in overt cardiac decompensation
• Severely symptomatic (e.g. FTT, poor weight gain).
• In patients with chronic anaemia, it is usually safe to plan
the transfusion the next morning (during working hours) and
take necessary blood investigations prior to transfusion (e.g.
FBP, Hb analysis, HIV etc.)
• In severe anaemia (Hb < 4 g/dL) low volume RBC cells (<
5mls/kg) is preferred. It might be necessary to transfuse
slowly over 4-6 hours with IV Frusemide (1mg/kg) midway.
HEREDITARY SPHEROCYTOSIS
Pathogenesis
• Autosomal dominant inheritance
• Membrane instability due to dysfunction or deficiency of a red cell skeletal
protein: ankyrin (75-90%) and/or spectrin (50%)
• Due to the inheritance of a defective structural protein (spectrin) in the RBC
membrane producing spheroidal and osmotically fragile RBCs
• These RBCs are trapped and destroyed in the spleen --> shortened RBC life
span
• Degree of clinical severity is proportional to the severity of RBC membrane
defect
• Presents in newborn (50% of cases) with hyperbilirubinemia, reticulocytosis,
normoblastosis, spherocytosis, negative Coomb’s test, and splenomegaly
• Presence before puberty in most patients
• Sometimes diagnosis made much later in life by chance
HEREDITARY SPHEROCYTOSIS
• Anaemia & Intermittent jaundice
(severity depends on rate of hemolysis, degree of compensation of anemia by
reticulocytosis, and ability of liver to conjugate and excrete indirect hyperbilirubinemia )
• Splenomegaly (mild to moderate depending on rate of haemolysis)
• Haemolytic crises
• Pigment gallstones in adolescents and young adults (bilirubin>)
• Aplastic crises uncommon, transient and caused by Parvovirus B19 infections
• Megaloblastic crises (All patients should receive folate supplement)
Rare manifestations
• Leg ulcers
• Spinocerebellar ataxia
• Myopathy
• Extramedullary haematopoietic tumours
Complications
• Hemolytic crisis – with pronounced jaundice due to accelerated
hemolysis ( may be precipitated by infection)
• Erythroblastopenic crisis – dramatic fall in Hb level and reticulocyte
count, usually associated with parvovirus B19 infection
• Folate deficiency caused by increased red cell turnover, may lead to
superimposed megaloblastic anemia
• Gallstones in 50% of untreated patients, incidence increases with age
• Rarely hemochromatosis
 Investigations in children with Suspected Spherocytosis
• Reticulocytosis
• Elevated MCHC
• Microspherocytosis in peripheral blood
films
• Autohaemolysis is increased and
corrected by glucose
• Anemia mild to moderate; MCV usually
decreased, MCHC raised
• Blood film – microspherocytes,
hyperdense cells,polychromasia
• Coomb’s test negative
• Increased red cell osmotic fragility
• Reduced red cell survival
Treatment
• Folic acid supplements
• Leukocyte-depleted packed red cell transfusion for severe
erythroblastopenic crisis
• Splenectomy indicated in poor growth and troublesome symptoms
eg severe tiredness, loss of vigour) but usually deferred until after 7
years (risk of post splenectomy sepsis)
• For patients planned for splenectomy, give pneumococcal,
haemophilus and meningococcal vaccination 4-6 weeks prior to
splenectomy and prophylactic oral penicillin given post-splenectomy
for life
Glucose-6-phosphate dehydrogenase
deficiency
• Most common red cell enzymopathy
• G6PD is a rate-limiting enzyme in the pentose phosphate pathway and
is essential in preventing oxidative damage to red cells
• X-linked , symptomatic in males
• Females: heterozygotes and are usually clinically normal as they still
have half the normal G6PD activity
G6PD Deficiency
• Clinical manifestations
1. Neonatal jaundice
2. Acute haemolysis

Management
3. Advise parents on signs of acute haemolysis which includes
jaundice, pallor, dark urine and provide with a list of drugs,
chemicals, food to avoid
G6PD deficiency
Drugs that can cause haemolysis in children with G6PD
• Antimalarials: Primaquine, Quinine, Chlroquine
• Antibiotics: Suphonamides, Quinolones (ciprofloxasin),
nitrofuruntoins
• Analgesics: Aspirin
• Chemicals: Napthalene (mothballs), Divicine( fava beans)
Thalassaemia
• Thalassemias are genetic disorders of hemoglobin (Hb) synthesis.
• Their clinical severity varies widely, ranging from mild to severe forms.
• Alpha thalassemia affects the alpha-globin genes.
• Beta thalassemia affects one or both of the beta-globin genes.
• In beta thalassemia minor (beta thalassemia trait or heterozygous
carrier-type), one of the beta-globin genes is defective.
• In beta thalassemia major (homozygous beta thalassemia), the
production of beta-globin chains is low because both beta-globin
genes are mutated.
• Most of the population are unaware of their carrier status.
• Carrier rates of thalassaemia gene in Malaysia:
- β-thalassaemia : 3 - 5%
-α-thalassaemia : 1.8 - 7.5%
-Haemoglobin E (HbE) : 5 - 46%
• HbE carriers are mainly in the northern peninsular states.
• Interaction between a β-thalassaemia carrier with an HbE carrier may
result in the birth of a patient with HbE/β-thalassaemia or thalassaemia
intermedia with variable clinical severity. The moderate to severe forms
behave like β-thalassaemia major patients while the milder forms are
asymptomatic.
Clinical features
• Failure to thrive in early childhood
• Anemia
• Jaundice, usually slight, gallstones
• Hepatosplenomegaly, hypersplenism
• Abnormal facies: prominence of malar eminence, frontal bossing,
depression of bridge of the nose, exposure of upper central teeth
• Skull radiographs showing hair-on-end appearance due to widening of
diploid spaces
• Fractures due to marrow expansion and abnormal bone structure
• Osteoporosis
• Growth retardation, primary amenorrhea, delayed puberty in males
• Leg ulcers
• Skin bronzing
• If untreated, 80% of patients die in the first decade of life
Baseline investigations to be done for ALL new patients: -
• Full blood count (In typical cases, the Hb is usually below 7g/dl)
• Peripheral blood film
• Mandatory: Haemoglobin analysis by electrophoresis or HPLC (High-
performance liquid chromatography)

Typical findings for β-thalassaemia major:

HbA decreased or absent, HbF increased, HbA2 variable
Hematology

• Hypochromic, microcytic anemia

• Reticulocytosis
• Leukopenia, thrombocytopenia
• Blood smear: target cells and nucleated cells, extreme
anisocytosis, contracted red cells, polychromasia, punctate
basophilia, circulating normoblasts
• HbF raised, HbA2 – increased
• Bone marrow: megaloblastic ( due to folate depletion), erythroid
hyperplasia
• Decreased osmotic fragility
• High serum ferritin

Biochemisty
• Raised bilirubin
• Evidence of liver dysfunction (late, as cirrhosis develops)
• Endocrine abnormalities (diabetes, hypogonadism )
Management
Regular blood transfusion and iron chelation therapy is the mainstay of
treatment in patients with transfusion dependent thalassaemia.
Clinical Scenario
Clinical scenario
An 8 years old girl, no known medical illness or previous history of
hospitalisation presented with dizziness and shortness of breath.
Mother claims child has been complaining of being easily fatigued
while playing, and has been participating less in physical activities.
Mother said she has noticed this on and off for pass few months, but
worsening for pass 2 weeks. Otherwise mother denies any bleeding
tendencies, history of fall or trauma or any traditional medication use.
Physical Examination
• Alert, conscious, not tachypneic, good pulse volume, CRT<2s,
conjunctival pallor, no icteric sclera, no angular cheilitis, no obvious
bruises seen, no clubbing of the fingers, pink , warm peripheries, no
lymph nodes palpable, no
• BP: 101/56 / PR:84 / T:36.9/ RR:26 / Spo2:98% (RA)
• Lungs: clear, CVS: DRNM, P/A: soft, liver and spleen 3cm palpable
Growth chart: height
and weight below 3rd
centile
Investigation
FBC : TWC 7.28 (N/L 1.8/4.84) / Hb 7.2 / HCT 20.9 / MCH 16.1 / MCHC
34.4 / MCV 52.6 / PLT 305
RP and LFT : normal
RBS : 4.4 mmol
TFT : Normal
Ferritine 78.8
Coombs test: both direct and indirect are negative
Infective screening: HIV /Hep B/Hep C: non reactive

On further history, mother mentions family history of father having HBE trait and
mother having Beta thalassaemia trait
Further investigation
Hb analysis:
-HbA1: 2.3, HbA2/E: 58.7, HbF 29.4
-microcytic hypochromic cells with target cells seen
-findings suggestive of HbE/beta thalasaemia

Diagnosis : HBE Beta thalassaemia

Management
• Transfused packed cell 20cc/kg
• T. Folic acid 5mg OD
• T Exjade 360mg OD
• TCA Daycare in x1/12 with FBC, RP, LFT and GXM\
• For hearing assessment, opthal and ECHO.
• For 6 monthly investigation in March 2021.
THANK YOU