Definition of Anemia Who here is anemic Newborn baby boy with hemoglobin 128 g dL 2 monthold baby girl with hgb 95 g dL 4 yearold girl with hgb 106 g dL 16 yo boy with ID: 911482
Download Presentation The PPT/PDF document "Anemia in Childhood Laura Rooms, M.D." is the property of its rightful owner. Permission is granted to download and print the materials on this web site for personal, non-commercial use only, and to display it on your personal computer provided you do not modify the materials and that you retain all copyright notices contained in the materials. By downloading content from our website, you accept the terms of this agreement.
Slide1
Anemia in Childhood
Laura Rooms, M.D.
Slide2Definition of Anemia
Who here is anemic?
Newborn baby boy with hemoglobin 12.8 g/
dL
2 month-old baby girl with
hgb
9.5 g/
dL
4 year-old girl with
hgb
10.6 g/
dL
16
y.o
. boy with
hgb
12.8 g/
dL
g/
dL
First hint – there are two correct answers
The correct answers are A and D
Slide3Lanzkowsky, Pediatric Hematology & Oncology, p. 753
Definition of
Anemia
Varies by age and gender
Age
Male
Mean Hgb (-2SD)
Female
Mean Hgb (-2SD)
Birth
16.5 (13.5)
16.5 (13.5)
2 months
11.5 (9.0)
11.5 (9.0)
0.5 – 2 years
12.0 (10.5)
12.0 (10.5)
2 – 6 years
12.5 (11.5)
12.5 (11.5)
6 – 12 years
13.5 (11.5)
13.5 (11.5)
12 – 18 years
14.5 (13.0)
14.0 (12.0)
18 – 49 years
15.5 (13.5)
14.0 (12.0)
Slide4Initial Work-Up
History & Physical
Acute
decompensation
vs. chronic problem
Blood loss
Other findings (lymph nodes, spleen,
petechiae
)
Diet (milk intake)
CBC
Other cell lines (WBC, platelets
)
MCV
Slide5Pallor
Slide6Classifying Anemia
Pathophysiologic classification
Decreased production
Increased destruction
Size classification
Microcytic
NormocyticMacrocytic
MCV varies by age
Slide7MCV
Macrocytic at birth (fetal hemoglobin)
By 6 months down to nadir
Minimum MCV = 70 + age
Adult normal 80-100
Age
MCV
-2 SD
Birth
108
98
2 months
96
77
0.5-2 years
78
70
2-6 years
81
75
6-12 years
86
77
>12 years
90
80
Slide8Slide9Slide10Microcytic anemia
Iron deficiency anemia
Diet
history
Pica
Lead poisoning
Type of
housing
Mom’s pottery habit
Toys from China or Mexico
Thalassemia
Family history
Slide11Case 1
21 month-old Vietnamese female
Lethargic and pale
Seen at PCP’s office with anemia
CBC – WBC 4.5K,
Hgb
4.6 g/
dL
, MCV 50
fl
, platelets 420K
Diet: white rice boiled in vegetables and then strained. Drinks approximately 1 gallon of whole milk every 2 days.
Slide12Peripheral blood 50X
Slide13Peripheral blood 100X
Slide14Iron deficiency anemia
Preventable disease
Discuss diet with your patients
Treatment
Avoid transfusion if clinically stable
Iron supplementation 6 mg/kg elemental iron divided TID until hemoglobin normal, then 2 mg/kg/day as preventive dose
Reticulocyte count should increase in a few days, hemoglobin within a week
Number one reason for treatment failure - noncompliance
Slide15Iron deficiency anemia
Confirmatory tests
Serum iron (low)
Total iron binding capacity (high)
Transferrin saturation = serum Fe/TIBC (<16%)
Ferritin should be low but could be high (acute phase reactant)
Long term effects
Psychomotor developmental defects
Impaired educational performance
Impaired endurance
Slide16Lead poisoning
Can’t differentiate from iron deficiency by CBC
Lead level on children at risk
Older homes
Pica
Symptoms of lead poisoning (usually subclinical)
Acute encephalopathy (seizures to coma)
Chronic encephalopathy (behavior changes, malaise) with abdominal pain and vomiting
Slide17Thalassemia
Mutation in hemoglobin chain resulting in low or absent hemoglobin production
Range from asymptomatic trait to thalassemia major
Microcytic anemia with high RBC
Diagnosis – hemoglobin electrophoresis (
neonatal available and better for alpha
thal
trait)
Two types
Alpha thalassemia
Beta thalassemia
Slide18Thalassemia
Slide19Alpha Thalassemias
Alpha genes deleted
Clinical disorder
Newborn Hb
(Hb Barts = gamma tetramer)
Adult Hb
(Hb H = beta tetramer)
One
None
1-3%
0%
Two
Thal minor
4-10%
0%
Three
Hb H disease
15-25%
10-25%
Four
Fetal death
100%
N/A
Slide20Beta Thalassemia
Beta Thalassemia type
Heterozygote
Homozygote
β
o
(mutation results in no beta chain production)
Thal minor
Hb A2 3.5-8%
Hb F 1-5%
Thal major
Hb A 0%
Hb A2 2-10%
Hb F 90-98%
β
+
(Mediterranean)
(point mutation results in unstable beta chain)
Thal minor
Thal major
Hb A 5-30%
Hb A2 2-5%
Hb F 70-90%
β
+
(African American)
(point mutation results in unstable beta chain)
Thal minor
Thal major
Hb A 5-75%
Hb A2 2-5%
Hb F 20-40%
Slide21Thalassemia Major
Severe anemia, dependent upon transfusions
Poor growth
Expansion of bone marrow – frontal bossing, etc.
Extramedullary hematopoiesis – hepatosplenomegaly
Develop iron overload
Slide22Slide23Macrocytic Anemia
B12 or folate deficiency
Inborn errors of metabolism
Hypothyroidism
Liver disease
Down syndrome
Fanconi anemiaElevated reticulocytosis following anemia of acute onset
Slide24Macrocytosis
Slide25Hypersegmented Neutrophil
Slide26Case 2
8 year-old boy referred by his PCP due to pancytopenia
PE – short stature, digitalized thumb, scars on abdomen
PMH – gastroschisis at birth resulting in short gut syndrome (basically no ileum), had been on TPN and vitamin B12 supplements, but not for last several years
CBC – WBC 1.7, Hb 3.2, MCV 103, plt 106
Slide27Case 2, cont.
Transfused with packed red blood cells
Bone marrow aspirate and biopsy done – hypercellular with megaloblastoid erythroid precursors.
Chromosomal fragility normal
Responded fully to vit B12 IM, then maintained on B12 “dots”
Slide28Slide29Normocytic Anemia
This is where it gets difficult!
Obtain a reticulocyte count
High – increased
destruction or loss
Low or normal – poor production
Check a bilirubin
Normal
bilirubin
Blood loss
High bilirubin
Hemolysis
Slide30Decreased Production
Decreased reticulocyte count
Low WBC/platelets
Infiltrated marrow
Congenital aplastic anemia
Acquired aplastic anemia
Bone marrow suppression from infection (viral)
Normal WBC/platelets
Diamond-
Blackfan
anemia
Transient erythroblastopenia
of childhoodAplastic crisis in patient with underlying hemolytic anemia
Slide31Diamond Blackfan Anemia
“Congenital” aplastic anemia
Presents in first 5 years of life
Often responds to steroids
Slide32Case 3
17 month-old girl had viral illness 2 weeks ago. Presents to PCP with lethargy and waxy appearance.
PE – pallor, no HSM or LAD
CBC – WBC 10.3,
Hb
5.6, MCV 80.9, platelets 660,
retic
0%
Transfused with PRBC’s, a few weeks later
retic
count increased to 7% and her
Hb normalized.
Slide33Hemolytic anemias
Positive Coombs’ test – extrinsic causes
Autoimmune hemolytic anemia
Isoimmune hemolytic anemia
Negative Coombs’ test
Hemoglobinopathy
Enzymopathy
RBC membrane disorders
Intravascular hemolysis
Slide34Hemoglobinopathies
Sickle cell disease
Types
Hemoglobin SS (65-70%)
Hb
SC
Hb
S
β
(0 or +)
Others
Signs and symptoms
In first year of life –
dactylitis
, splenomegaly
After – complications such as pain crisis, acute chest
Diagnosis – hemoglobin
electrophoresis (newborn screen)
and RBC morphology
Slide35Sickle cell disease
Slide36Enzymopathies
G6PD deficiency
Hemolytic crisis following ingestion of triggers
Fava beans, antimalarials, sulfonamides, nitrofurantoin, aspirin, antihelminthics, methylene blue, etc.
X-linked recessive
10% of African American population
Confirmed with G6PD levels
Pyruvate kinase deficiency
Chronic hemolysis with splenomegaly
Splenectomy ameliorates symptoms
Confirmed with PK levels
Slide37RBC Membrane Disorders
Hereditary spherocytosis
Presents in the neonatal period with jaundice and anemia
Autosomal dominance – often a positive family history of anemia, jaundice, gallstones, splenectomy
Diagnosed by morphology, confirmed by osmotic fragility
Ameliorated with splenectomy
Other rarer disorders – elliptocytosis, pyropoikilocytosis, stomatocytosis, acanthocytosis, xerocytosis
Slide38Case
4
9 y/o WM referred for evaluation of anemia
7 day h/o febrile illness with occassional emesis
Seen on day of illness #3 where CBC showed anemia.
PCP follow up confirmed anemia
+ exercise intolerance. Improving energy level.
No URI symptoms. Negative Strep swab.
PMH: negative for jaundice as a newborn. + allergies. Normal development
Slide39Case
4
continued
FMH: H/O jaundice as a newborn in mom and maternal GM. + gallbladder disease on both sides. No known h/o anemia. HTN, DM, Colon CA, mental illness.
ROS: Headache, arm and leg pain, poor appetite
PE: Slight pallor. No HSM. Normal VS’s. No LAD
Slide40Case
4
continued
Lab:
5/6
(day of illness #3)
WBC=3.2; Hgb=7.7; Hct=22; plt=68
5/7
WBC=5.3; Hgb=10.3; Hct=28; plt=259
5/10
WBC=8.2; Hgb=9.8; Hct=26; plt=447Retic = 4Coombs’ Negative
Slide41Peripheral Smear
Slide42Intravascular (extracorpuscular hemolysis)
Idiopathic
Secondary
Drugs
Infection (DIC)
Microangiopathic
(e.g. TTP, HUS)
Waring
blender morphology
Slide43TTP
Peripheral smear
Slide44TTP Peripheral
smear
Slide45Cases to Work Out If Time Permits
Slide46Extra Case 1
8
y.o
. girl, AA from Lawton
Presented to ER at Reynolds with pain in chest and legs – exam unremarkable
History of multiple episodes like this, often
preciptitated
by swimming
WBC 6.6K,
Hgb
6.9 g/
dL, plt
183KMCV 79Retic 2.5%, bilirubin 1.3History of sickle cell trait on newborn screen
Slide47Extra Case 1
Transfused up when hemoglobin dropped to 5.9 g/
dL
Pain improved with transfusion
Prior to transfusion drew
haptoglobin
and electrophoresis
Haptoglobin
normal
Hemoglobin electrophoresis
Hgb
A 13.7%
Hgb A2 6%Hgb S 67.7%Hgb F 12.6%
Slide48Diagnosis –
Hemglobin
S-
β
+
thalassemia
Slide49Extra Case 2
1
y.o
. boy presents from WIC with a low hemoglobin
Exam – normal, mixed race, active boy
Repeat the CBC
WBC 4.8,
Hgb
7.2 g/
dL
, platelets 302KMCV 50.8 fL
Retic – 0.2%Your next step?
Slide50Extra Case 2
RTC in 1 week
CBC virtually identical,
retic
0.4%
RTC in 1 month
Hgb
6.2 g/
dL
,
retic
0.5%Refractory to iron?Iron deficiency or something else?
Slide51References
Khan, L. Anemia in Childhood.
Pediatr
Annals. 2018, Feb
1;47(2
):
e42-e47.
Yawn,BP
et al. Management of sickle Cell Disease: summary of the 2014 evidence-based report by expert panel members. JAMA.
2014 Sep 10;312(10):1033-48
.
Wang, M. Iron Deficiency and other types of anemia in infants and children. Am Fam Phys
2016 Feb 15;93(4):270-8.Nathan and Oski's Hematology of Infancy and Childhood - 7th Edition