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
Hemoglobin
Structural formula
Embryonic
Hb-Gower 1
ζ2ε2
HB-Gower 2
α2 ε 2
Hb- Portland
ζ2γ2
Fetal
Hb-F
α2γ2 (0.5-1%)
Adult
Hb-A
α2β2 (97%)
Hb- A2
α2δ2 (1.5-3.2%)
Hemoglobin
Major Sites Of Hematopoiesis
Yolk sac: Starts from 3rd week till 10-12th week
Liver: Starts at 6-8th week, ceases by 2nd trimester
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)
Sickle cell anemia
IDA
Acute pancreatitis
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)
APLASTIC ANEMIA
Inherited/acquired condition with pancytopenia with hypo/acellular bone marrow
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