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Megaloblastic Anemia

Megaloblastic anemia is caused by vitamin B12 or folic acid deficiency, which are essential for DNA synthesis in stem cells. This leads to large immature red blood cells (megaloblasts) in the bone marrow and peripheral blood. Symptoms include anemia, fatigue, jaundice and neurological issues with severe B12 deficiency. Diagnosis involves blood tests showing macrocytic anemia and bone marrow examination revealing megaloblastic changes. Treatment involves replacing the deficient vitamin and treating any underlying absorption issues. Prophylactic vitamin supplementation is also needed for certain high risk groups.

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Abdifatah Abdiwali mohamed
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377 views26 pages

Megaloblastic Anemia

Megaloblastic anemia is caused by vitamin B12 or folic acid deficiency, which are essential for DNA synthesis in stem cells. This leads to large immature red blood cells (megaloblasts) in the bone marrow and peripheral blood. Symptoms include anemia, fatigue, jaundice and neurological issues with severe B12 deficiency. Diagnosis involves blood tests showing macrocytic anemia and bone marrow examination revealing megaloblastic changes. Treatment involves replacing the deficient vitamin and treating any underlying absorption issues. Prophylactic vitamin supplementation is also needed for certain high risk groups.

Uploaded by

Abdifatah Abdiwali mohamed
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Megaloblastic Anemia

Dr Ibrahim Addow,
Pediatrics & Child health resident,
MRCPCH-UK Part 1.
Definition:
 Anemia with megaloblasts in BM and
macrocytes in peripheral blood.
Causes:
1. Vitamin B12 (cobalamin) deficiency

2. Folic Acid deficiency.


Pathogenesis
 Folic acid & B12 are essential for DNA
synthesis in stem cells of RBCs, platelets
and WBCs.
 So in folic acid or B12 deficiency
 Nucleus can't devide
 Decreased RBCs production
 while RNA is normal
 increased cytoplasm
 megalobasts in BM
Cont….
 can't leave BM Intramedullary lysis

 macrocytes in blood
 trapped prematurely in the spleen
 extramedullary lysis
Metabolism
Vitamin B12:
 Sources: animal origin only e.g. milk, meat.

 Requirements: 5-20 mcg./day

 Absorotion: Gastric parietal cells release

intrinsic factor (IF) which binds to B12


B12/IF complex then absorbed from
terminal ileum
 Stores enough for 2-4 years
Folic acid:
Sources:
 animal & plant (green leaves, fruits)
 Requirements:
 20-50 mcg./day
 Absorotion:
 Absorbed from the proximal
intestine(duodenum and jejunum)
 Requires vitamin C for absorption
 Stores enough for 2-4 months
Causes of B12 & folic acid deficiency
Vitamin B12:
1. Decreased intake:
o very rare except breast feeders of vegetarian
mothers
2. Decreased Absorption:
 Malabsorption syndrome
Cont…
 Intrinsic factor defect
 Pernicious anemia
 congenital: no or abnormal IF
 Juvenile: antibodies against IF & parietal
cells.
 Gastrectomy
Cont…
3. B12 /IF consumption by:
Diphyllobothrium tatum or bacterial
overgrowth.
4. Ileal disease. Or resection

Others:
 Defective transport: transcobalamin II

deficiency.
Folic acid
 Decreased intake: Uncommon; may occur
in infants fed on: Goat's milk
 Decreased absorption:
 Malabsorption syndrome
 Vitamin C deficiency
 Impaired metabolism:
 anticonvulsant  phenytoin & valproate
 Cytotoxic drugs methotrexate
Others
 Increase requirements: e.g.
 Prematures (decreased stores)
 Pregnancy
 Chronic Hemolytic anemia
 Reduced stores: liver cirrhosis
 Increased loss: hemodialysis
Clinical picture
1. Hematologic:
 Anemia (Anorexia, pallor,
tiredness )with slight jaundice.
 Advanced megaloblastic anemia 
thrombocytopenic purpura and
leucopenia
 Mild hepatosplenomegaly due to
intramedullary hemolysis
2. GIT manifestations esp. in folate
deficiency:
 Atrophic glossitis Beefy
red glazed tongue in 25 %
 Atrophic gastritis
Dyspepsia, vomiting, risk
of cancer stomach
 Atrophy of intestinal mucosa
 Abdominal pain and
chronic diarrhea.
3. Neurologic manifestations:
 Sub acute Combined Degeneration
(SCD)
 Only with severe vitamin B12 deficiency
(? irreversible)
Degeneration of:
 Posterior column deep sensory loss,
sensory ataxia
 Pyramidal tract Progressive
weakness, Paraplegia & delayed motor
milestones
 Peripheral Nerve Symmetrical
paraesthesiae in fingers & toes
Diagnosis
1. Is it megaloblastic anemia?
 CBC
 Low Hb% & Ht value
 MCV > 100 fl
 MCHC = normal
 Thrombocytopenia, leucopenia and
reticulocytopenia in advanced cases.
BM
 Erythroid hyperplasia
 Megaloblastic changes
2. What is the cause?
 Vitamin B12 deficiency:
 Is there Vitamin B12 deficiency?
 Low serum vitamin B12 (Diagnostic)
 Therapeutic test: 1 mcg B12 
reticulocytosis at 6th day
What is the cause of Vitamin B12
deficiency?
 Schilling test: done if the etiology was
unclear
 Small amount of radioactive B12 is given
orally
 1 mg non radioactive B12 is given IM to
saturate B12 binding proteins.
 Normally 10-30% of oral B12 excreted in
urine.
 in B12 malabsorption~< 2% is excreted.
 Gastric function tests:
 Histamine or pentagatrin test confirm
achlorhydra
 Serological tests:
 Anti-parietal and anti-IF antibodies
Folic acid deficiency
 Low serum folate; RBC level is better
measure of tissue folate (Diagnostic)
 Therapeutic test: 0.2 mg Folate  look
for reticulocytosis at 6th day
Treatment
1. B12 deficiency:
Pernicious anemia:
 Hydroxocobalamin IM 1000 mcg to a

total of 6 mg over the course of 3


weeks Then 1000 mcg every 3 months
for the rest of the patient’s life.
 Recent alternatives: high oral or

sublingual dose 2 mg per day


Cont….
 Gastrectomy or ileal disease:
 Monitor serum B12 whenever low
give prophylactic vitamin B12

 Treat the underlying disease


Folic acid deficiency
a) Treat the underlying disease
b) Exclude subclinical B12 deficiency
which ca be aggravated by folic acid
therapy
c) Folic acid 5 mg/day continued for 4
months to replace body stores.
Prophylaxis
 Chronic hemolytic anemia 5 mg weekly
 Premature<1500gm require 1 mg daily
for 6 weeks
END

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