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DCA2017
Outline
• Definition of Anemia
• Classification according to the etiopathogenesis
• Clinical features of Anemia
• Common causes of Anemia
DCA2017
Anemia
•Reduction of the RBC volume
(Hematocrit) or hemoglobin
concentration below the range
of values occurring in healthy
persons
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Normal lower limits for hemoglobin and
hematocrit levels (Nelson’s textbook of
Pediatrics)
Hemoglobin Hematocrit
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Etiopathogenesis of Anemia
Iron, folic acid,
proteins 2
Deficiency Anemia
Bone Marrow
4
Marrow Failure
Circulation
3
1
Blood Loss Hemolysis
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Classification of Anemia based on
Red Cell MCV
MCV low MCV normal MCV high
Marrow Infiltration
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Anemias secondary to Blood Hypoproliferative anemias
Loss • Aplastic anemias
• Acute • Pre RBC aplasia (Diamond Blackfan
• Chronic (GL menstruation) Syndrome)
• Anemia of chronic diseases
• Bone Marrow replacement (Leukemias,
tumors, storage diseases)
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Clinical Features of Anemia
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Clinical Features of Anemia
General Specific
Shortness of breath especially on exertion Koilonychia (“spoon nails”)
- Iron deficiency
Splenomegaly
- Thalassemia
- Leukemias
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Complete Blood Count
• Simple and inexpensive
• Provides much more information than is routinely
used
• When anemia is present, it can assist in formulating
a differential diagnosis and directing further
evaluation.
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Other Tests
• Serum Ferritin concentration
- Early indicator of the status of iron stores
- Expensive and not readily available in most laboratories
• Serum iron
- A measure of the total amount of iron in the serum
• Hemoglobin electrophoresis
- Measures the proportions of the various hemoglobin in the
circulating red cells.
• Bone marrow examination
• G6PD Assay
• Coomb’s test
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Bone Marrow Procedure
•Sites:
1.Posterior iliac crest
2.Anterior ilia crest
3.Sternum
4.Tibia
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Deficiency anemias
Iron Deficiency
Megaloblastic Anemias
-Vitamin B12 Deficiency
-Folic Acid Deficiency
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Iron Deficiency Anemia (IDA)
• Definition: Anemia resulting from lack of sufficient
iron for synthesis of hemoglobin
• The most common cause of anemia in every
country
• Microcytic-hypochromic
• Blood film shows small and pale red cells
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The Irony of Iron
IRON is the most abundant
element
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• Almost all of the iron needed is drawn
from stores, which was recycled from
the destruction of old red cells
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Pathologic Causes Of Iron
Deficiency Anemia
• Gastrointestinal bleeding: the most common
1. Peptic ulcer
2. Gastritis
3. Parasitism
4. Inflammatory bowel disease
5. Cancer
• Menometrorrhagia
• Chronic loss from the urine or sputum
• Iatrogenic
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Clinical Manifestations
• Pallor
• In infants (0-12 months) and preschool children(1-5
years)
- Developmental delays
- Behavioral disturbances (e.g.. Decreased motor activity,
social interaction, and attention to tasks)
• Pregnant woman
- Increased risk of preterm delivery in the first two
trimesters of pregnancy
- Threefold increased risk for delivering a low-birthweight
baby
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Laboratory Diagnosis
• Low Hemoglobin and Hematocrit
• Low Serum ferritin concentration
• Low Serum iron concentration
• Increased Total Iron Binding Capacity(TIBC)
• Low Transferrin saturation
• Bone marrow iron is absent
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Vitamin B12 Deficiency
• Macrocytic anemia
• Causes
• Mal-absorption
• (pernicious anemia)
• Gastrectomy
• Dietary
• Tapeworm infestation
• IIeal resection
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Folate Deficiency
• Causes
1. Nutritional
2. Malabsorption (gastrectomy, jejunal
resection)
3. Excess utilization (pregnancy)
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Clinical Features Of
Megaloblastic Anemia
• Pallor
• Mild jaundice
• Glossitis(beefy-red sore tongue)
• Progressive neuropathy (Vitamin B12 deficiecy)
• Neural tube defects
• Sterility
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Laboratory Findings:
Megaloblastic Anemia
• Macrocytic anemia
• Macrocytes are oval in shape
• Low reticulocyte count
• Hypersegmented neutrophils
• Bone marrow : hypercellular and the erythroblasts
are large and show failure of nuclear maturation (
open lacy pattern) but normal hemoglobin pattern.
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Hemolytic anemias
Thalassemias
G6 PD deficiency
Hereditary spherocytosis
Autoimmune
Secondary to infections/drugs
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Hemolytic Anemias
• Definition: Accelerated destruction of red cells
wherein destruction exceeds production
Hemolytic
Anemias
Intravascular Extravascular
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Hemolytic Anemias
Extravascular Hemolysis – by tissue macrophages in the spleen
• Autoimmune hemolysis
• Hereditary microspherocytosis
• Unstable hemoglobin disease
• Hemoglobinopathies
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Hereditary Hemolytic Anemias
• Hereditary Spherocytosis
- Mild anemia
- Reticulocytosis
- Microspherocytes in the blood film
- Increased osmotic fragility
- Treatment: splenectomy
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Disorders of Hemoglobin Synthesis
Hemoglobin
Heme Globin
Congestive
Thalassemia
Erythropoietic
Syndromes
porphyria
Alpha
Beta thalassemia
thalassemia
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The Hemoglobins
Hemoglobin Polypeptides
Hemoglobin A2 22
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ALPHA THALASSEMIA
• alpha globin genes code for the production of the alpha
polypeptides of the hemoglobin
• 4 distinct forms
1. Single gene deletion – silent carrier
2. Two-gene deletion-mild anemia
3. Three gene deletion – Hb H disease (84)
4. Four gene deletion – incompatible with life; hydrops fetalis
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THALASSEMIA SYNDROMES
• Autosomal recessive
• Clinical Manifestations
1. Hypochromic-microcytic anemia of varying severity
2. Growth failure, hepatosplenomegaly
3. Massive expansion of the marrow of the face and skull
chipmunk facies
4. Bone marrow: hypercellular, marked erythroid
hyperplasia
5. Radiologic features: hair on end appearance of the
skull x-ray, thinning of the cortices, widening of the
medullary cavities of the long.
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THALASSEMIA SYNDROMES
• Diagnosis
1. CBC
2. Reticulocyte count
3. Serum Ferritin
4. Hemoglobin Electrophoresis
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Defective Red Cell Metabolism:
G6PD
• Most common inherited enzyme deficiency
affecting red cells
• Babies with G6PD deficiency lack the enzyme,
Glucose 6 Phosphate Dehydrogenase
• X-linked inheritance
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DIAGNOSIS: G6PD DEFICIENCY
• Detected by newborn screening
• Normal blood count if no hemolysis
• Heinz bodies during hemolytic crisis
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TREATMENT
• Hemolytic episodes:
1. Remove inciting agent (infection/drug)
2. Blood transfusion if necessary
• Xylitol: to permit NADPH to be produced by
different routes
• Vitamin E: anti-oxidant effect???
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Acquired Hemolytic Anemia
• Auto-immune Hemolytic Anemia
1. Antibody vs own red cells
2. Enlarged spleen
3. Severe hemolysis
4. Spherocytosis in blood film
5. + coomb’s test
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Hypoproliferative anemias
Anemia of chronic disease
Bone marrow replacement
Aplastic anemias
Pure RBCC aplasia ( Diamond Blackfan syndrome)
(Leukemias, tumors, storage diseases)
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Bone Marrow
Failure
Transient
Fanconi’s Anemia Blackfan-Diamond Erythroblastopenia
of Childhood (TEC)
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Aplastic Anemia
• Pancytopenia resulting from aplasia of the bone
marrow
• Idiopathic: most common
• Occur at any age
• Anemia is normochromic/normocytic or macrocytic
• Very low retic count
• Low WBC, platelets
• Bone marrow hypoplasia
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TRIVIA ON ANEMIA
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