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Nick Fustino, MD
Blank Children’s Hospital
Cancer and Blood Disorders Center
Objectives
• Define anemia and red blood cell (RBC) indices in
pediatric patients
• Learn to categorize anemias based on RBC size and
mechanism
• Understand the presentation, workup, and treatment
of pediatric anemias
• Will not discuss anemia secondary to blood loss or
anemia secondary to malignancy in great detail
What is anemia?
• Physiologic Definition:
3 yo with cyanotic heart
– Hemoglobin (Hgb) level
disease and Hgb 13 g/dL
too low to meet cellular
is ANEMIC
oxygen demands
• Statistical Definition:
– Hgb level <2 SD below A 6 week-old thriving
mean for age, gender, premie with Hgb 7.7 g/dL
race, and developmental is NOT ANEMIC
stage
Many factors affect baseline Hgb levels
Age
Gender
Race
Sexual Maturation
Altitude
Heredity
Method of blood draw affects Hgb
levels in newborns
Oettinger L, Mills WB. J Pediatr. 1949;35:362-365; Nathan & Oski, 7th Ed.
Age: Physiologic Anemia of Infancy
18
Mean
16 Physiologic nadir at ~2 mos
(earlier and lower in premies) 2 SD
Hgb (g/dL)
14
12
10
8
Mean
105
2 SD
95
MCV
85
75
65
0.5 1 2 4 6 9 12
Adapted from Saarinen, Months of Age
Siines, J Pediatr, 1978
Hgb and MCV increase after age 1
Leadville, CO
(10152 ft elev.) = 12
Des Moines
Boston (19 ft elev.) = 11.0
(955 ft elev.) = 11.1
• Examples
– 2 year old male with Hgb 11.3 gm/dl & MCV 73 fl = normal
– 7 year old female with Hgb 11.3 gm/dl & MCV 73 fl = abnormal
(anemic and microcytic)
Microcytic, hypochromic,
polychromasia, anisopoikilocytosis
library.med.utah.edu
Case 1 - Iron Deficiency
• Most common nutritional deficiency in the
world
– 1 billion people and half the world’s children
• United States
– 12-36 mo olds (1-4% prevalence of IDA)
• Excessive cow’s milk intake
– Teenage girls
• Menorrhagia
65% of TBI is in
HEMOGLOBIN
http://huhs.harvard.edu/assets/File/OurServices/Service_Nutrition_Iron.pdf
IDA - Prognosis
Prognosis Refractory to iron therapy?
• Retic should ↑ in 4-6 days • Non-compliance
• Hgb should ↑ ~1 g/dL/week • Non-compliance
• Once CBC normalized, treat • Non-compliance – check
3 more months to replete bottle in clinic
hepatic stores • Underlying cause ongoing
• Long-term neurocognitive (menorrhagia, cow’s milk)
deficits • Malabsorption (celiac, IBD,
genetic mutations)
• Wrong dx (thalassemia, etc).
Case 2
An 18 mo old boy of Laotian
descent presents for a WCC.
He has pallor and fatigue. He
has splenomegaly and slight
jaundice on exam. He has
good nutrition. PCP checks
venous CBC.
Pathologystudent.com
MCV 63
Retic 4% Plt 124 (L)
RBC 5.4 (H)
Case 2 – Normal globin synthesis
varies with age
Case 2 – Normal globin synthesis
Case 2 - Thalassemia
Decreased production
of α or β globins
Imbalance between α
or β globins
γ
α α α=β β β
α α α β
γ β β
α α
β
γ β
α α α α
γ β
Hgb F Hgb A
Case 2 – α-thalassemia
X
γ α β
γ
Fetus/Newborn α
Child/Adult β
α α α<β β β
γ
α β
γ β β
γ β
γ β
γ γ α α α α β β
γ γ β β
Hgb
Bart’s Hgb H
Hgb F Hgb A
α-thalassemia
• Mutations affecting α-globin gene
– Differ from β-thalassemia
– Tend to be whole gene deletions
X X
X X
α-thalassemia
Genotype α genes Name Phenotype Treatment
αα/αα 4 Normal
αα/α- Normal, maybe slight
3 Silent carrier None
microcytosis
αα/-- Borderline microcytic
Minor
anemia, possible
Thal. Trait None
2 Bart’s on NB screen,
Asian
α-/α- Thal. Trait African None
--/α- Hgb H disease Moderate microcytic Avoid oxidant
Intermedia
γ
α α α<β β β
α α α
γ β
α α
γ α β
α α α α α α
γ α β
Unstable
Hgb F Hgb A
β-thalassemia
Phenotypic variability Common β-globin mutations
• Mutations affecting both
the β-globin gene and its
regulators / promoters
• Cause anywhere from 0%
production to 99.9% of
normal production
– β0 = 0% production
– β+ = 1-99% production
• Labs: GU 3%
Abn. facies 3%
– Macrocytic anemia
Gonadal 3%
(sometimes normocytic)
Neck 2%
– ↓ retic Head 2%
Dev. Delay 2%
Ears, CNS 1%
Shimamura and Alter, Blood Rev, 2010
DBA – Caused by defective ribosomal
biogenesis
Herrick, 1910
Case 6 – Sickle Cell Anemia
• Presentation: NB screen, but be aware of African descent and
not born in USA
• Diagnosis: Hgb electrophoresis
DNA
RNA
AA
Hgb
RBC
Education-portal.com Nathan & Oski, Hematology of Infancy and Childhood, 7th ed.
Complications of Sickle Cell Disease
Thelancet.com
Case 7 – HS
Retic 1.5%
WBC 1.5
ANC 240
Wikidoc.org
Plt 12
Case 9 – Aplastic Anemia
Severe AA Criteria
• Bone Marrow Failure Marrow <25% cellularity Required
Syndrome ANC <500
Leukemias
• Macrocytosis
• Nucleated RBC
• Hyper-segmented neutrophils
Nick Fustino, MD
• Sickle Cell Disease
• Embryonal Solid Tumors
THANK YOU!