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Important Hematological Disorders In Children

Feb 21, 2023


Hematological disorders in children can be complex to diagnose and manage, and require a thorough understanding of the pathophysiology, clinical presentation, and appropriate treatment options.

Read this blog further to know more about the important hematological disorders in children and strengthen your pediatrics preparations for NEET PG exam.

Normal Erythropoiesis      

  • Normal human haemoglobins


Structural formula


Hb-Gower 1


HB-Gower 2

α2 ε 2

Hb- Portland




α2γ2 (0.5-1%)



α2β2 (97%)


Hb- A2

α2 δ(1.5-3.2%)


 Major Sites Of Hematopoiesis              

  • Yolk sac: Starts from 3rd week till 10-12th week
  • Liver: Starts at 6-8th week, ceases by 2nd trimester
  • Bone marrow: Starts from 2nd trimester onwards

Important Information

Normal life span of RBC

  • Older children & adults: 120 days
  • Term neonate: 90 days
  • Preterm neonate: 60 days

NEET PG Question Bank

Anemias In Children  

  • WHO definition
    • Children 6 months – 5 years: Hb < 11 g/dl
    • Children 6-14 years: Hb < 12 g/dl
  • Approach to anemia in children


Pallor, lethargy




No Petechiae

  • Iron deficiency anemia
  • Megaloblastic Anemia
  • Pure red cell aplasia 
  • Lead poisoning
  • Chronic kidney disease

Petechiae Present      

  • Aplastic Anemia
  • Bleeding disease
  • Coagulation disease
  • DIC 



  • Thalassemia
  • Sickle cell disease


  • Leukemia
  • Infection
  • Infiltrative Disorders

Iron Deficiency Anemia         

  • Mc cause of nutritional disorder in the world
  • MC cause of anemia in the world


  • Decreased iron intake 
    • Inadequate diet
  • Impaired absorption: Celiac disease
  • Increased iron loss
    • Gastrointestinal bleeding
    • Inflammatory bowel disease
  • Increased requirements
    • infancy, puberty
  • Inadequate presentation to erythroid precursors
    • Atransferrinemia

Clinical Features 

  • Pallor: generalised weakness, lethargy
  • Smooth and shiny tongue
  • Pica
  • Koilonychia
  • PS: Microcytic, Hypochromic Anaemia, anisocytosis, target cells, pencil cells

Important Information

microcytic, hypochromic anemia also in:

  • Thalassemia
  • Anemia of chronic disease eg., RA, osteomyelitis, papillary necrosis
  • Lead poisoning 
  • Sideroblastic anemia
D/D of microcytic, hypochromic anemiaIDAB Thalassemia minor / traitAnaemia of Chronic disease
S. ironDecreasedNormal/IncreasedDecreased
S. ferritinDecreasedNormal/IncreasedIncreased
Mentzer Index>14<13

Treatment of IDA                                 

  • 3-6 mg/kg/ day of elemental iron 
  • Maximum dose: 200mg of elemental Iron daily 
  • Only 10% of oral dose gets absorbed
  • For IV correction, total amount of Iron needed
    = (body weight [kg] [15−patient’s Hb] 2.3) + 500mg

Response to treatment in iron deficiency anemia          

Time after Iron administrationResponse
12-24 hours Decreased irritability, increased appetite
48-72 hoursReticulocytosis appears, peaks at 5-7 days post treatment
4-30 daysIncrease in Hb level (best measure)
1-3 monthsRepletion of stores

Megaloblastic Anaemia     

  • Due to Vit B12 or folic acid deficiency
  • On Peripheral smear: Macro ovalocytes, Hyper segmented neutrophils(>5 lobes in 5% neutrophils)
  • Treatment: Vitamin B12 and Folic acid


  • Defect: Decreased production of Beta globin chains.
  • Common Mutations in India
    • IVS 1-5 G → C
    • IVS  1-1 G → T
    • Codon 41/42
    • Codon 819
    • 619 by deletion
  • Classification
    • Thalassemia trait/ minor: Heterozygous state, Mild Anemia (HbA2≥ 3.5%, HbF is normal)
    • Thalassemia intermediate0+): Moderate anaemia, Hepatosplenomegaly: HbF elevated
    • Thalassemia major00): severe anaemia, hemolytic facies: HbF markedly elevated regular transfusions requirement

Clinical features

  • Haemolytic Facies
    • Frontal prominence
    • depressed bridge of nose
    • maxillary prominence
  • Hepatosplenomegaly (d/t extramedullary hematopoiesis)


  • Lat. X Ray skull: ‘Hair on End’ or ‘Crew Cut appearance’
  • Hemolytic anemia
    • Low Hb, low MCV, low MCH(thalassemia major)
    • Increased LDH
    • Increased unconjugated bilirubin
  • PS: microcytic, hypochromic anemia, target cells, Howel jolly bodies, poikilocytosis
  • Osmolar fragility: decreased (NESTROFT- Naked Eye Single Tube Red Cell Osmotic Fragility Test)  
  • Coombs test -ve (+ve in immune hemolytic anemias) 
  • Hb HPLC(high performance liquid chromatography) or Hb electrophoresis: 
    • beta thalassemia major
      • Hb A decreased
      • Hb A2 increased
      • HbF increased 
  • Definitive diagnosis: globin gene mutation- helps in prenatal diagnosis in next pregnancy

Treatment of Thalassemia

  • Repeated Blood Transfusions: To maintain pretransfusion Hb level between 9.5-10.5 g/dL
  • The only curative treatment for thalassemia major: Hematopoietic stem cell transplantation (HSCT)
  • Iron Chelation Therapy: Usually started when serum ferritin >1000 ng/ml
    • Deferoxamine: Parenterally (IV or SC) 
      • Effective in reverting hepatic & cardiac iron deposition.
    • Deferiprone: 1st oral chelator.
      • Adverse effects ? Agranulocytosis, GI side effects, arthritis
    • Deferasirox:  Oral drug, Effective in decreasing cardiac iron burden & lowering serum ferritin.

Complications of thalassemia and its therapy          

  • Endocrine: Osteoporosis, Short stature, delayed puberty, Hypothyroidism, Hypogonadism, D.M
  • Cardiac: Heart failure, pericardial effusion, DCM
  • GI: Transaminitis
  • Other- Infections, allergies

Alpha Thalassemia  

  • Normal                           α α/αα
  • Alpha trait                        -α/αα
  • Alpha thalassemia             --/αα                         
  • Non immune hydrops      --/-α
  • Free beta and gamma chains: β4 & λ4 (tetramers) – precipitate in RBCs and hemolysis occurs

Also Read: CARBOHYDRATE & Amino Acid Metabolism DISORDERS

Sickle Cell Anemia             

  • MC Structural Hemoglobinopathy 
  • Point mutation in 6th codon of β-globin gene so there is replacement of glutamate with valine
  • Production of Hb with abnormal physiochemical properties that promotes polymerization of deoxygenated Hb
  • Heterozygous Trait: sickle cell trait –protects against falciparum
  • Homozygous Trait: sickle cell disease
  • Pathophysiology 

On Deoxygenation, HbS forms long polymers

RBC membrane damage

Microvascular obstruction leading to ischemia & tissue damage.

Hemolysis in Reticuloendothelial system

  • Clinical Features
    • Usually presents after 6 months of age
    • Anemia: pallor, generalized weakness
    • CNS: stroke
    • Retinopathy
    • Hand foot syndrome (dactylitis of hands & foot)
    • Priapism (in 45% of affected male) & erectile dysfunction
    • Auto splenectomy due to splenic infarcts: predisposes to infection by encapsulated organisms
    • Renal papillary necrosis

Important Information

  • Infection is M/C cause of death in children < 3 yrs of age

Important Information

Crises in sickle cell disease

  • vaso occlusive crisis:painful
  • aplastic crisis: parvovirus B19
  • hemolytic crisis
  • splenic sequestration
  • acute chest syndrome
  • Diagnosis
    • PS: evidence of hemolysis, sickle cells, Howel Jolly bodies
    • (SICKLING TEST: mixing a blood sample with metabisulfite or dithionite induces sickling of RBCs, if HbS is present)
    • Spleen biopsy:  Gamma Gandy bodies
    • Hb Electrophoresis to detect HbS peak 
    • Confirmatory test: genetic defect checked 
    • Treatment
  • Maintain hydration 
    • Avoid infections & do immunisation
    • Acute painful crisis: analgesia
    • blood transfusion
    • Hydroxyurea for patients with severe symptoms (increases HbF levels)
    • Bone marrow transplantation
    • gene therapy

Important Information

  • HbD: in punjabi/sindhis
  • HbE: in Bengal/ NE states

Previous Year's Question

A boy after playing football complaining and abdominal pain. He also had a history of hand swelling in past. On USG, he has shrunken spleen. What is the likely diagnosis of this patient? (NEET Jan 2020)

  1. Sickle cell anemia
  2. IDA
  3. Acute pancreatitis
  4. Intermittent porphyria       

Fanconi Anemia                       

  • AR inheritance
  • Abnormal chromosomal fragility (demonstrated using Diepoxybutane or Mitomycin C) 
  • Clinical Features
    • Most common Hyperpigmentation, café au lait spots
    • Short stature
    • Absent radius, hypoplastic thumb.
    • Facial dysmorphism: Microcephaly, small eyes, epicanthic folds, abnormal ears.
    • Renal/ CNS/GIT malformations
  • Complications: Increased risk of tumors like squamous cell Carcinoma of Head/ Neck/Esophagus.
  • Treatment
    • Transfusions
    • HSCT (definitive treatment)


  • Inherited/acquired condition with pancytopenia with hypo/acellular bone marrow
  • Clinical features
    • pancytopenia
      • Anemia:pallor, easy fatigability,
      • Thrombocytopenia: bleeding manifestations 
      • Leukopenia: fever, recurrent infections
    • No lymphadenopathy
    • No hepatosplenomegaly
  • Diagnosis
    • CBC: pancytopenia
    • PS: normocytic, macrocytic, decreased platelets, decreased WBCs
    • Bone marrow: fat globules
  • Treatment 
    • Treat the cause
    • Steroids
    • Immunosuppressants
    • Antithymocyte globulin
    • Transfusion
    • Hsct

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