Megaloblastic Anemia

Megaloblastic Anemia Introduction

  • Megaloblastic anemia is a type of anemia characterized by the presence of large, abnormal red blood cells (megaloblasts) in the bone marrow and peripheral blood.
  • It is primarily caused by deficiencies in vitamin B12 or folic acid, both essential for DNA synthesis.

Causes of Megaloblastic Anemia:

Vitamin B12 Deficiency

  1. Dietary Deficiency: Insufficient intake of animal products (common in vegans).
  2. Malabsorption:
    • Pernicious Anemia: Autoimmune destruction of stomach cells producing intrinsic factor.
    • Surgical Removal: Parts of the stomach or intestines removed surgically.
    • Gastrointestinal Diseases: Conditions like Crohn’s disease.
  3. Other Causes:
    • Chronic Alcoholism
    • Certain Medications: Such as metformin and proton pump inhibitors.
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Folic Acid Deficiency

  1. Dietary Deficiency: Poor intake of folate-rich foods (leafy greens, fruits, nuts, beans).
  2. Increased Demand:
    • Pregnancy and Lactation
    • Rapid Cell Turnover: Conditions like hemolytic anemia and cancer.
  3. Malabsorption: Conditions like celiac disease or surgical removal of parts of the intestines.
  4. Other Causes:
    • Chronic Alcoholism
    • Certain Medications: Such as methotrexate and anticonvulsants.

Pathophysiology

Pathophysiology of Megaloblastic Anemia
Pathophysiology of Megaloblastic Anemia
  • Disrupted DNA Synthesis: Deficiencies in vitamin B12 or folic acid disrupt DNA synthesis.
  • Production of Megaloblasts: Leads to the formation of large, immature red blood cells (megaloblasts).
  • Impaired Cell Division: These abnormal cells have an impaired ability to divide and mature properly.
  • Ineffective Hematopoiesis: Results in anemia and decreased production of functional blood cells.
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Symptoms of Megaloblastic Anemia:

  • Common symptoms of megaloblastic anemia include:
  1. Fatigue and Weakness
  2. Shortness of Breath
  3. Pale or Jaundiced Skin
  4. Glossitis: Inflamed, sore tongue.
  5. Neurological Symptoms (specific to vitamin B12 deficiency):
    • Numbness and tingling in hands and feet.
    • Balance problems.
    • Cognitive disturbances.
  6. Gastrointestinal Symptoms:
    • Loss of appetite.
    • Weight loss.
    • Diarrhea
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Diagnosis

  • Diagnosis typically involves:
  1. Complete Blood Count (CBC): Low hemoglobin, high mean corpuscular volume (MCV).
  2. Serum Vitamin B12 and Folate Levels: Low levels indicate deficiency.
  3. Peripheral Blood Smear: Presence of large, oval-shaped RBCs (macrocytes) and hypersegmented neutrophils.
  4. Bone Marrow Examination: Megaloblastic changes in bone marrow cells.
  5. Methylmalonic Acid and Homocysteine Levels: Elevated in vitamin B12 deficiency.

Treatment

Vitamin B12 Deficiency

  1. Dietary Changes: Increase intake of vitamin B12-rich foods (meat, fish, dairy products, fortified cereals).
  2. Vitamin B12 Supplements:
    • Oral Supplements
    • Intramuscular Injections: For individuals with absorption issues.
  3. Treat Underlying Causes: Address gastrointestinal conditions or dietary deficiencies.
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Folic Acid Deficiency

  1. Dietary Changes: Increase intake of folate-rich foods (leafy greens, fruits, nuts, beans).
  2. Folic Acid Supplements: Oral supplementation.
  3. Treat Underlying Causes: Address malabsorption issues or conditions with increased demand.

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