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Anemias

Dr. Maria Suga A. Dioko, DPPS, FPSHBT

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Outline
• Definition of Anemia
• Classification according to the etiopathogenesis
• Clinical features of Anemia
• Common causes of Anemia

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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

2 weeks (full term) 13.7 g/dl 42%

Children (3 months) 9.5 g/dl 31%

6 months to 6 years 10.5 g/dl 33%

Children (7-12 years) 11.0 g/dl 34%

Women (nonpregnant) 12.0 g/dl 37%

Women (pregnant) 13.0 g/dl 40%

Men 14.0 g/dl 42%


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What causes the Anemia?

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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

Chronic Acute Intravascular Extravascular

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Classification of Anemia based on
Red Cell MCV
MCV low MCV normal MCV high

Thalassemias Normal Aplastic anemia

Iron Deficiency Many Hemolytic Anemias Leukemia

Anemia of Chronic Chronic diseases Folate deficiency


disease (some cases)

Lead poisoning Hereditary Spherocytosis Vitamin B12 deficiency

Blood Loss Liver disease

Early Iron Deficiency

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)

Hemolytic anemias Deficiency anemias


• Thalassemias • Iron Deficiency
• G6PD Deficiency • Vitamin B12 Deficiency
• Hereditary Spherocytosis • Folic Acid Deficiency
• Autoimmune
• Infections/drugs

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Clinical Features of Anemia

•Depends on the adaptation of the


person and the type of anemia
1. Speed of onset
2. Severity
3. Age

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Clinical Features of Anemia
General Specific
Shortness of breath especially on exertion Koilonychia (“spoon nails”)
- Iron deficiency

Pallor of the mucous membranes Jaundice


- Hemolytic or megaloblastic anemia

Tachycardia Leg ulcers


- Sickle cell disease

Systolic murmur Bone deformities


- Thalasemia Major

Recurrent infections + hematomas


- Bone marrow failure/malignancy

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.

Red Cell Indices


1. Mean Cell Volume (MCV)
2. Mean Cell Hemoglobin Concentration (MCHC)
3. Mean Cell Hemoglobin (MCH)
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Blood Smear
• Can provide information on erythrocyte abnormality
• In the absence of the red cell indices, it is very useful
in classifying anemia
• The smear must be adequate for examination
• Staining must be satisfactory

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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

IRON DEFICIENCY ANEMIA is


the most common
micronutrient deficiency

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• Almost all of the iron needed is drawn
from stores, which was recycled from
the destruction of old red cells

• The vast majority of the iron is retained


in the body as it is moved from one
compartment to another

• Very little iron is obtained from the diet

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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)

These developmental delays may persist past school


age (i.e. 5 years) if he iron deficiency is not fully
reversed
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Clinical Manifestations
• In adults ( >/= to 18 years)
- Impaired work capacity
- Fatigue and lethargy

• 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

Intravascular Hemolysis – in the circulation


• G6PD deficiency
• Traumatic hemolysis
• Malaria DCA2017
Hereditary Hemolytic Anemias
• Hereditary Spherocytosis
1. Caused by defects in the membrane cytoskeleton of the red cell
2. Autosomal dominant
3. Jaundice
4. Splenomegaly
5. Associated with gallstones

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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 A1 (Adult) 22

Hemoglobin A2 22

Hemoglobin F (Fetal) 22

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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

Acquired Aplastic Congenital Aplastic


Anemia Anemia

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

• Low blood pressure = anemia


• One can look at the color of a person’s skin to
determine the presence of anemia
• Iron is the treatment for all anemia
• Lack of sleep can cause anemia

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