Title: In the name of God
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3DEFINITION OF ANEMIA
- Anemia may be defined as a reduction in red blood
cell mass or blood hemoglobin concentration. -
- It is particularly important to use age and sex
adjusted norms when evaluating a pediatric
patient for anemia
4Normal limit of Hb in children
5CLASSIFICATIONS OF ANEMIA
- Physiologic classification
-
- Morphologic classification
- Mean corpuscular volume
6Anemia
- Blood loss (acute) Normal spleen, high retic
count, normal bilirubin, normal urinalysis - Hemolytic anemia Splenomegaly, increased
reticulocyte count, high bilirubin (indirect),
urobilinogen or hemoglobinuria - Impaired red cell formation Normal spleen, low
retic count, normal bilirubin, normal urinalysis
- Retic, bilirubin, spleen, U/A,
7Approch to anemia blood loss(Acute) (Normal
spleen, high retic count, normal bilirubin,
normal urinalysis)
- Neonatal problem (fetofetal transfusion,
fetomaternal transfusion,) -
- Hemorrhagic disease of newborn
-
- Meckels diverticulum, ..
8Anemia
- Blood loss (acute)
- Hemolytic anemia Splenomegaly, increased
reticulocyte count, high bilirubin (indirect),
urobilinogen or hemoglobinuria - Impaired red cell formation
9Approch to anemia Hemolytic anemia
(Splenomegaly, increased reticulocyte count, high
bilirubin (indirect), urobilinogen or
hemoglobinuria)
- 1) Corupuscular
- 2) Extra corpuscular
- Enzyme defect,
- Membrane defect,
- Hemoglobin disorder
10Hemolytic anemia Corpuscular
- G6PD deficiency
- PK deficiency
11Glucose 6 phosphate dehydrogenase(G6PD)
12G6PD DEFICIENCY
- X-linked disorder
- Affecting 200 to 400 million people
- Contains 515 amino acids
- Over 400 variant enzymes have been reported (90
according to specific mutations)
13Classification of G6PD variants
- Class I variants are rare, have severe enzyme
deficiency (less than 10 percent of normal) and
have chronic hemolytic anemia(44 variants) - Class II variants have severe enzyme
deficiency, but there is usually only
intermittent hemolysis (28 variants) - Class III variants have moderate enzyme
deficiency (10 to 60 percent of normal) with
intermittent hemolysis usually associated with
infection or drugs (16 variants) - Class IV variants have no enzyme deficiency or
hemolysis(2 variants) - Class V variants have increased enzyme activity
14PATHOPHYSIOLOGY OF G6PD DEFICIENCY
- The in vivo half-life of enzyme normal enzyme
(G6PD B) 62 days, G6PD A- 13 days, G6PD
Mediterranean in hours - G6PD A- Patients usually have hemolysis that is
mild and limited to older deficient erythrocytes
(class III). - G6PD B(Mediterranean) red cells of all ages are
grossly deficient (class II).
15DIAGNOSIS
- Clinical presentation (should be considered in
the differential diagnosis of any nonimmune
hemolytic anemia) - Laboratory findings Hemolysis (Hb, Retic count,
bilirubin, hemoglobinemia, hemoglobinuria), PBS
(polychromatophlia,Heinz bodies, bite cells
),Rate of NADPH generation
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17Hemolytic anemia Corpuscular
- G6PD deficiency
- PK deficiency
18Pyruvate kinase deficiency
- Clinical presentation
- a broad spectrum of clinical and hematologic
findings occurs, ranging from a mild, completely
compensated hemolytic state to severe anemia. - Anemia and hyperbilirubinemia may occur in the
neonatal period. - In the older patient, pallor, scleral icterus,
and splenomegaly are usual findings.
19Pyruvate kinase deficiency
- Laboratory findings
- Elevated reticulocyte count.
- A few small spiculated erythrocytes
- No increased number of spherocytes
- Osmotic fragility is normal.
20Hemolytic anemia Corpuscular
- Enzyme defect
- Membrane defect
- Spherocytosis,
- Elliptocytosis
21Membrane defect Spherocytosis
- Pathophysiology A deficiency or abnormality of
the erythrocyte membrane structural protein
spectrin , ankyrin, band 3, and protein 4.2. - The spherocyte is relatively rigid and
non-deformable
22Membrane defect Spherocytosis
- Clinical presentation anemia, hyperbilirubinemia,
splenomegaly Expansion of the marrow cavities . - Laboratory findings reticulocytosis, anemia,
hyperbilirubinemia, spherocyte in PBS, Erythroid
hyperplasiain BMA, osmotic fragility test,
Autohemolysis,
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25Hemolytic anemia Corpuscular
- 1)Enzyme defect
- 2) Membrane defect
- 3) Hemoglobin disorder
- Normal variant,
- Functional disorder,
- Structural problem,
- Thalassemia
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31Hemolytic anemia Hemoglobin disorder
-
- Normal variant,
- Functional disorder,
- Structural problem,
- Thalassemia
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37Hemolytic anemia Extracorpuscular
- Alloimmune,
- isoimmune,
- Autoimmune
- HUS syndrome,
- TTP,
- DIC,
- Infection,
- Burn,
- Hypersplenism, ..
38Typical Hemolytic Uremic Syndrome
- In the majority of cases, Stx HUS is associated
with strains of Escherichia coli that produce a
Shiga toxin - D HUS associated with Shigella dysenteriae
serotype 1 will be included in the discussion of
Stx HUS - Cases of HUS in children due to Shiga
toxin-producing E. coli infections other than
colitis (e.g. UTI) can occur .
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41Anemia
- Blood loss (acute)
- Hemolytic anemia
- Impaired red cell formation Normal spleen, low
retic count, normal bilirubin, normal urinalysis
42Approch to anemia Impaired red cell formation
(Normal spleen, low retic count, normal
bilirubin, normal urinalysis)
- 1)Deficiency
- 2)Bone marrow failure
- 3)Bone marrow infiltration
Iron deficiency Megaloblastic anemia vitamins,
Thyroxine deficiency
Failure of a single cell line Failure of all
cell line
Malignant Non malignant
43Approch to anemia Impaired red cell formation
(Normal spleen, low retic count, normal
bilirubin, normal urinalysis)
- 1)Deficiency
- 2)Bone marrow failure
- 3)Bone marrow infiltration
Iron deficiency Megaloblastic anemia
vitamins Thyroxine deficiency
44Clinical manifestation of IDAHematological
symptoms
- The most common presentation of IDA is an
otherwise asymptomatic, well nourished infant or
child who has a mild to moderate microcytic,
hypochromic anemia
45Clinical manifestation of IDA Non hematological
symptoms
- Neurodevelopmental and Cognitive function
- Immunity
- Exercise capacity
- Pica and pagophagia
- Thrombosis
- Epithelial change dysphagia, esophageal web,
atrophic glossitis, spoon nails, blue sclerae
46Approch to anemia Impaired red cell formation
(Normal spleen, low retic count, normal
bilirubin, normal urinalysis)
- 1)Deficiency
- 2)Bone marrow failure
- 3)Bone marrow infiltration
Failure of a single cell line CPRA, TEC,
A.crisis Failure of all cell line Aplastic anemia
47Fanconi AnemiaClinical features
- Incidence is 3/1,000,000
- Heterozygote frequency 1/300 in U.S. and Europe
- Median age at diagnosis is 5-7
- Median survival is 20-30 yrs.
- Phenotypic variability occurs even within families
48Frequency of abnormalities in FA
Abnormality Frequency ()
Skeletal (radial ray, hip, vertebral scoliosis, rib) 71
Skin pigmentation (café au lait, hyper- and hypopigmentation) 64
Short stature (median height 5th ile) 63
Eyes (microphthalmia) 38
Renal and urinary tract 34
Male genitalia 20
Mental retardation 16
Gastrointestinal (eg, anorectal, duodenal atresia) 14
Cardiac abnormalities 13
Hearing 11
Central nervous system (eg, hydrocephalus, septum pellucidum) 8
No abnormalities 30
49Approch to anemia Impaired red cell formation
(Normal spleen, low retic count, normal
bilirubin, normal urinalysis)
- 1)Deficiency
- 2)Bone marrow failure
- 3)Bone marrow infiltration
Malignant Leukemia Non malignant Metabolic
disease Osteopetrosis
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52Fast Cases
53- A 15 yo girl with a history of systemic lupus
erythematosus comes to the clinic for evaluation
of fatigue and pallor. - Hgb is 7.2, MCV 85, Retic 10, WBC 3.5 (50
polys, 40 lymphs, 10 atypicals), and plts of
125. - The smear shows microspherocytes and rouleaux
formation. She does not have a history of blood
loss. - What does she have?
- Autoimmune hemolytic anemia
54- 17 mounts age infant with an unexplained
persistent anemia - History of neonatal jaundice
- Requirement of pRBC transfusion 2 early infancy
- Hb stable 7-9 gr/dl from age 3-17 months
- spleen 5 cm below costal margin
- Retic 20, with indirect hyperbilirubinemia
- What does she have?
- Pyruvate kinase deficiency
55- A 3 yo girl has had diarrhea, sometimes bloody,
for several days. Now, she has fever, edema,
petechiae hypertension. - The CBC shows Hgb 7.5, MCV 79, Retic 15, Plts
35, and WBC 13.5 with a normal differential. The
smear shows several helmet cells and
polychromasia and confirms the thrombocytopenia - What does she have?
- Hemolytic uremic syndrome
56- A 3 month old boy is brought to the ED lethargic
and with a fever of 40 C. While attending to
the airway, correcting hypotension and initiating
antibiotics, the nurse informs you of the CBC
results Hgb 5.8, MCV 81, Retic 16, WBC 23.5
(56 polys, 24 bands, 10 lymphs, 10 atypical
lymphs) and plts of 350. - He has blood on dipstick analysis of his urine
with no RBCs on microscopic analysis. - The blood shows polychromasia, and several bite
cells. - What does he have?
- G6PD deficiency
57- A 9 month old boy comes the Dr.s office for
evaluation of a cold. Further hx reveals
introduction of whole cows milk at 5 months and
no well baby visits. - He appears quite pale and has the following
findings Hgb 5.3, MCV 48, plts 780, WBC 12.5
and retic 1.7 - What does he have?
- Iron Deficiency anemia
58- An 18 month old girl was in good health until she
developed a cold 10 days ago. - Now she is pale but without visible jaundice.
- The CBC shows a Hgb of 6.8, MCV of 78 and retic
of 0.1, WBC Plts are normal as is the
peripheral blood smear. - What does she have?
- Transient Erythroblastopenia of
Childhood
59- The CBC of an 8 yo girl reveals the following
Hgb 10, MCV 102, Retic 0.4, WBC normal, Plts
125. - She is slightly short, has several large
café-au-lait spots, is performing below average
in school and has short thumbs. - What does she have?
- Fanconis Anemia
60- You are asked to assist in the care of political
refugees from Afghan. On the screening entrance
exam you note that one of them, a 2 yo girl, is
very pale and lethargic. Her spleen is down to
the level of the umbilicus. - The labs reveal Hgb 6.3, Retic 6, MCV 55, with
normal WBC plts. - The smear shows many target cells, polychromasia,
basophilic stippling, red cell fragment,
anisocytosis and hypochromia. - What does she have?
- ? thalassemia major
61People may doubt what you say
but they will believe what you do