Survey Question

Which source would you prefer to be
assigned for next year’s board review
sessions?
 A: Zitelli’s Atlas
 B: Peds In Review articles
Tips: Normal Values

MCV
 70 to 90 Infants and Toddlers
 80 to 100 Adults

Hgb/Hct
Ddx of hypochromic, microcytic
anemia
Iron deficiency
 Lead poisoning
 Thalassemia
 Chronic disease

 (may be normocytic, normochromic)

Sideroblastic anemia

Remember: Fe Def and Pb often coexist!!
Tips

If MCV< 70 with normal iron studies:

Thalassemia and lead toxicity are most
likely
Iron deficiency
Merely a lab finding, NOT a diagnosis
 Possibilities

 Poor nutrition (most common)
 Chronic hemorrhage
 Malabsorption

2 peaks
 10-18 months
 Adolescent females
Excessive cows milk intake
Fe in cows milk is not bioavailable
 Leads to Fe deficiency anemia
 Clinical

 Large child
 Pallor
 Loose stools: +/- heme
 Protein losing enteropathy
○ Hypoalbuminemia
○ Edema
Chronic Fe Deficiency Anemia
Asymptomatic
 Irritability
 Tachycardia
 Fatigue
 Koilonychia or spooning of nails
 Glossitis
 Longstanding: Decreased IQ

Start Fe supplementation at 4 mos old
(Rice Cereal)
Ddx: Fe Def, Thalassemia
Peripheral smear: hypochromic microcytosis
 Thalassemia minor:

 RDW low
 Hgb ≥ 9
 Lower MCV

Fe Def
 RDW high
 Low RBC number
Ddx: Fe Def, Thalassemia

RDW
 Iron
 ThaLassemia
hIgh
Low
Question 1

This finding may be seen in:
 A: Lead intoxication
 B: Thalassemia
 C: Iron Deficiency
 D: A, B, and C
Hypochromic, microcytic anemia with basophilic
stippling
Ddx: Fe Def, Lead Toxicity


Hypochromic, microcytic anemia
Basophilic stippling
 Neither sensitive nor specific

Ringed sideroblast
 Pb toxicity and sideroblastic anemia

Free erythrocyte protoporphyrin (FEP)
 Elevated in both Fe Def and Lead
 Higher in Lead poisoning
 (Normal in thalassemia)

Lead levels: Routine screening & high risk
 >15 μg/dL needs tretment
Beta Thalassemia Minor (Trait)
Defect in one of the beta globin alleles
 Asymptomatic
 Mild anemia

Beta Thalassemia Major
(Cooley’s)
Mutation in both beta globin alleles
 Severe deficiency in amount of beta
globin
 Profound microcytic anemia first year of
life
 Frequent transfusions

Beta Thalassemia

Electrophoresis
 Low levels of Hgb A1
 Increased levels of Hgb A2
 Increased Hgb F

Long term complications
 Cholelithiasis
 Hemosiderosis
Alpha Thalassemia
Defect in two alpha globin genes
 Mild microcytic anemia

Fe Deficiency vs Chronic Illness
Anemia
Ferritin
TIBC
Chronic Illness
High
Low
Iron Deficiency
Low
High
• Chronic Illness: No need for Fe therapy!!
• Adequate Fe stores
• Not enough “carrier energy” (low TIBC)
Physiologic Anemia of Infancy
6-10 weeks old
Normocytic!
MCV > 100
B12 (Cobalamin) deficiency

Causes:
 Intrinsic factor deficiency (Pernicious anemia)
 Bacterial overgrowth
 Bowel resection
 Breastfed infants with vegetarian mothers

Schilling test: Measures B12 absorption
Tips

Heme question with compromised gut:
 B12 deficiency
○ Glossitis, angular stomatitis

Infant drinking goat’s milk
 Folic acid deficiency

Patient taking phenytoin or methotrexate
 Folic acid deficiency
Tips
Serum B12 levels appear normal in 5%
of patients with true deficiency
 If suspicion is high, measure

 Homocysteine
 Methylmalonic acid
BOTH elevated in B12 def
 Only homocysteine elevated in folate def

Administration of folate will
correct anemia without
addressing B12 deficiency:
Irreversible neuro damage
Tips
Jaundice, dark urine, splenomegaly:
Anemia involving hemolysis
Question 2
What is the most common cause of
genetically determined hemolytic
anemia in the white population?
 A: Hereditary Spherocytosis
 B: G6PD Deficiency
 C: Pyruvate Kinase Deficiency
 D: Hereditary Elliptocytosis

G6PD Deficiency


Heinz Bodies
Black (also Mediterranean)
 Most common X-linked disorder in black males
 (dark urine, jaundice, anemia)

Heterozygous females may be affected
 Lyonization

Causative agents




Mothballs
Antimalarials
Nitrofurantoin
Sulfa
G6PD Deficiency

Diagnosis:
 Fluorescent spot test
 Methemoglobin reduction test (methylene blue)
 !! Inaccurate following acute hemolysis !!

Note:
 With G6PD deficiency, methylene blue is
ineffective in treating methemoglobinemia.
Pyruvate Kinase Deficiency
AR
 Block in red cell’s energy pathway
 Depleted of lactate and ATP

 Buildup of DPG
 (shifts oxygen-binding curve to right)

Dx:
 Assay of PK enzymatic activity
Question 3
A defect in which RBC cytoskeletal
membrane protein is responsible for
Hereditary Spherocytosis?
 A: Kallerin
 B: Haematid
 C: Metalloprotein
 D: Spectrin
 E: Sphingomyelin
Hereditary Spherocytois


AD
Defect in surface of RBC
 Loss of surface area


Etiology: Spectrin deficiency
Increased MCHC
 Cell is smaller with same amt Hgb

Dx:
 Osmotic fragility test (Not pathognomonic)

Tx:
 Folic acid
 Spelectomy is curative

More prone to aplastic crisis
Hereditary Elliptocytosis
AD
 Similar RBC destruction as
Spherocytosis
 Clinically insignificant unless
splenic hypertrophy present
(from another process)

Tips

G6PD much more common than
Pyruvate Kinase deficiency
 However:

PK deficiency more commonly
symptomatic!!
• Uptodate.com
Sickle Cell

Any severe, acute complications:
 Exchange transfusion is the answer!

Symptoms of stroke:
 Exchange transfusion
○ Diagnostic tests are secondary
Sickle Cell

Howell-Jolly Bodies:
Sickle Cell

Heinz Bodies: G6PD
deficiency
Question 4

Which of the following is FALSE
regarding Transient Erythroblastopenia
of Childhood
 A: Most common in 1 to 4y/o children
 B: Responds well to steroids
 C: MCV is typically normal
 D: Normal amount of fetal hemoglobin
DBA vs. TEC

Diamond Blackfan:
 Arrest in maturation of RBCs

Transient Erythroblastopenia of
Childhood
 Suppression of erythroid production
Similarities: DBA and TEC
Profound isolated RBC anemia
 Low Hgb, low retic

 (Retic may be elevated in recovery phase of
TEC)
Present infancy/toddlerhood
 Gradual onset

 DBA may be anemic at birth

Relatively asymptomatic (for degree of
anemia)