Anemia, Folate Deficiency

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Anemia, Folate Deficiency

Jill S. Halterman, MD, MPH , George B. Segel, MD

Basic Information

Definition

Folate deficiency megaloblastic anemia is associated with impaired nuclear maturation of the hematopoietic cells in the marrow. The characteristic finding in the marrow is a delay of nuclear maturation compared with cytoplasmic maturation. This may result in a macrocytic anemia, thrombocytopenia, and hypersegmentation and reduction of granulocytes.

ICD-9-CM Codes

281.2 Folate deficiency anemia

Epidemiology & Demographics

• Body stores of folic acid are small in comparison to daily requirements; therefore deficiency may result relatively quickly from inadequate folate intake or poor folate absorption.
• Folate requirements are greatest per kilogram in newborn infants, young children, and pregnant and lactating women.
• Other groups with increased folate requirements are those with malabsorption syndromes, premature infants, children receiving chronic antiepileptic therapy, and children with chronic hemolysis with or without anemia.
• Human and cow’s milk provide adequate amounts of folic acid; goat’s milk contains very little folic acid.

In adolescents and adults, chronic alcoholism and inadequate diet may result in folic acid deficiency.

Clinical Presentation

History

• Goat’s milk ingestion
• Chronic diarrhea (malabsorption)
• Failure to gain weight

Etiology

• Decreased dietary folate intake: goat’s milk, alcoholism
• Malabsorption: celiac disease, inflammatory bowel disease, short gut syndromes

Diagnosis

Differential Diagnosis

• Megaloblastic: vitamin B12 deficiency, rarely thiamine deficiency, dyserythropoietic anemia, drugs, transcobalamin II deficiency, inborn errors of metabolism (oroticaciduria, homocystinuria), myelodysplastic syndromes
• Pernicious anemia
• Macrocytosis: hemolytic anemias with increased reticulocytes, liver disease

Workup

• Family history

image Complete neurologic examination to rule out signs of subacute combined degeneration in B12 deficiency

Laboratory Tests

• Complete blood cell count, platelet count, reticulocyte percentage

image In more severe deficiency, laboratory evaluation reveals a macrocytic anemia with a mean corpuscular volume greater than 100 fL/cell.

• Review of blood film for macro-ovalocytes, Howell-Jolly bodies (nuclear remnants), nucleated red cells, hypogranulated platelets, and hypersegmented granulocytes
• Granulocytopenia and thrombocytopenia may be present.
• Low serum folate (less than 3 ng/mL; normal, 5 to 20 ng/mL), in addition to low red cell folate

image Mild folate deficiency can be detected by a decrease in red cell folate.

• Marrow exam would reveal dissociation between nuclear and cytoplasmic maturation (megaloblasts and giant metamyelocytes).
• Total plasma homocysteine level is increased above normal in most patients with folate deficiency.
• Concomitant vitamin B12 deficiency must be ruled out because treatment with folic acid may mask the diagnosis of B12 deficiency by correcting the hematologic findings. Such children would remain at risk for the neurologic manifestations of vitamin B12 deficiency.

Treatment

Nonpharmacologic Therapy

• Dietary insufficiency should be corrected to provide adequate folate intake.

Acute General Rx

• Treatment is initiated with physiologic quantities of folate (50 to 100 μg/day) and monitoring of the reticulocyte percentage.
• Reticulocytosis should occur after the first week of treatment if folate deficiency was present.
• Therapy consists of 1 mg/day of folic acid.
• Larger amounts of folate (5 mg/day) may be needed for children with malabsorption.

Chronic Rx

• Continue folate if malabsorption not effectively resolved
• Treat for other associated problems (alcoholism)

Disposition

• Follow-up based on etiology and ongoing associated medical or psychological problems.

Referral

• For patients with megaloblastic anemia caused by folate deficiency, both hematology and gastroenterology consultations may be reasonable.

Pearls & Considerations

Comments

• Supplement with folic acid if patient is a known goat’s milk drinker.
• All patients with chronic hemolysis should receive supplemental folic acid.
• Alcoholism is a major underlying factor in folate deficiency in adolescents and older patients.

Suggested Readings

6th ed. Nathan DG, Orkin SH, editors. Nathan and Oski’s Hematology of Infancy and Childhood. Philadelphia: WB Saunders; 2003.

Rosenblatt DS, Whitehead VM. Cobalamin and folate deficiency: acquired and hereditary disorders in children. Semin Hematol. 1999;36:19.

[/level-membership-for-pediatrics-category][not-level-membership-for-pediatrics-category]

Anemia, Folate Deficiency

Jill S. Halterman, MD, MPH , George B. Segel, MD

Basic Information

Definition

Folate deficiency megaloblastic anemia is associated with impaired nuclear maturation of the hematopoietic cells in the marrow. The characteristic finding in the marrow is a delay of nuclear maturation compared with cytoplasmic maturation. This may result in a macrocytic anemia, thrombocytopenia, and hypersegmentation and reduction of granulocytes.

ICD-9-CM Codes

281.2 Folate deficiency anemia

Epidemiology & Demographics

• Body stores of folic acid are small in comparison to daily requirements; therefore deficiency may result relatively quickly from inadequate folate intake or poor folate absorption.
• Folate requirements are greatest per kilogram in newborn infants, young children, and pregnant and lactating women.
• Other groups with increased folate requirements are those with malabsorption syndromes, premature infants, children receiving chronic antiepileptic therapy, and children with chronic hemolysis with or without anemia.
• Human and cow’s milk provide adequate amounts of folic acid; goat’s milk contains very little folic acid.

In adolescents and adults, chronic alcoholism and inadequate diet may result in folic acid deficiency.

Clinical Presentation

History

• Goat’s milk ingestion
• Chronic diarrhea (malabsorption)
• Failure to gain weight

Etiology

• Decreased dietary folate intake: goat’s milk, alcoholism
• Malabsorption: celiac disease, inflammatory bowel disease, short gut syndromes

Diagnosis

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