Macrocytic achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B-12 deficiency (malabsorption)

Many cells in our body need vitamin B-12, including nerve cells and blood cells. Inadequate vitamin B-12 gradually affects sensory and motor nerves, causing neurological problems to develop over time. It is important to know that the neurological effects of vitamin B-12 deficiency may be seen before anemia is diagnosed.

The anemia also affects the gastrointestinal system and the cardiovascular system. The following symptoms may indicate pernicious anemia:

• shortness of breath
• fatigue
• pallor
• rapid heart rate
• loss of appetite
• diarrhea
• tingling and numbness of hands and feet
• sore mouth
• unsteady gait, especially in the dark
• tongue problems
• impaired sense of smell
• bleeding gums
• positive Babinski's reflex
• loss of deep tendon reflexes
• personality changes, "megaloblastic madness"

Tests that may indicate pernicious anemia include:

• CBC results that show low hematocrit and hemoglobin with elevated MCV (low red blood cell count with large-sized red blood cells)
• CBC showing low white blood count and low platelets
• low reticulocyte count
• bone marrow examination (only needed if diagnosis is unclear)
• serum LDH
• below normal serum vitamin B-12 level
• Schilling test
• measurement of serum holotranscobalamin II
• measurment of methylmalonic acid (MMA)

This disease may also alter the results of the following tests:

• TIBC
• peripheral smear
• leukocyte alkaline phosphatase
• gastrin
• cholesterol test
• bilirubin