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Diagnosis and management in a child with megaloblastic anemia.

Megaloblastic Anemia:

Diagnosis:

History:

Dietary history
Drug history
Surgical history
Symptoms & signs
  • Pallor
  • Weakness, lethargy, irritability, feeding difficulties
  • Neurological complaints
    • Seizures
    • Sensory defects
    • Developmental delay

Microscopy:

Macrocytic RBC
Nucleated RBC
Neutrophils with hyper segmented nuceli

Lab parameters:

  • MCV High  (>100fl)
  • Neutropenia
  • Thrombocytopenia
  • Elevated LDH
  1. Folate deficiency

RBC folate levels(150-600ng/ml) are better indicator than serum folate than serum folic acid(5-20ng/ml)
Concomitant B12 deficiency if present should also be treated to avoid worsening of neurological symptoms.

      2. Vit B12 deficiency
  • ↓ B12 levels
  • ↑ methyl malonic acid (MMA) & homocysteine
  • ↑ urinary MMA 
  • Anti IF & anti Parietal cell antibodies

Treatment:

Folic Acid deficiency:

Folic acid
  1. 0.5 - 1 mg/d for 3-4wks(untill hematological response)
  2. 0.2 mg/d maintenance therapy
  3. High dose folic acid in Hereditary folate malabsorption

B12 deficiency:

  1. Adolescent: 1000 μg/dose
  2. Child: 50-100 μg/dose
Initially daily injections for 1 week then,
Alternative day injection for 2 weeks then,
weekly injections for 1 month then,
Biweekly injections for 1 month then,
Once in a month

Orotic Aciduria:

Uridine administration

Rogers syndrome:

Thiamine supplementation


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