Thalassemia minor presenting with vitamin B

Area of Science:

• Neurology
• Hematology
• Nutritional Science

Background:

• Vitamin B12 is crucial for neurological function and hematopoiesis.
• Deficiency can lead to diverse neuropsychiatric and hematological symptoms.
• Early diagnosis and treatment are vital to prevent irreversible damage.

Observation:

• A 32-year-old female presented with acute paraparesis and sensory loss in lower limbs.
• Mildly decreased vitamin B12 levels were noted, alongside elevated methylmalonic acid and homocysteine.
• Complete blood count revealed low mean corpuscular volume, not anemia or macrocytosis.

Findings:

• Hemoglobin electrophoresis indicated thalassemia trait, which likely obscured typical megaloblastic anemia markers.
• The patient's neurological symptoms resolved completely following vitamin B12 supplementation.
• This case underscores how coexisting conditions can mask vitamin B12 deficiency.

Implications:

• Thalassemia trait can mask hematological signs of vitamin B12 deficiency.
• Testing for vitamin B12 deficiency should be considered even with atypical blood counts.
• Prompt vitamin B12 replacement is effective in reversing neurological deficits.