Diagnostic Approach to Anemia Prof. Dr. Teoman SOYSAL Definition of anemia  Anemia: A reduction in – red cell mass –  O2-carrying capacity of blood It is expressed.

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Transcript Diagnostic Approach to Anemia Prof. Dr. Teoman SOYSAL Definition of anemia  Anemia: A reduction in – red cell mass –  O2-carrying capacity of blood It is expressed.

Slide 1

Diagnostic Approach to
Anemia
Prof. Dr. Teoman SOYSAL


Slide 2

Definition of anemia


Anemia: A reduction in
– red cell mass




O2-carrying capacity of blood

It is expressed in terms of reduction
in the concentration of Hb (or RBC or
Hct%) compared to values obtained
from a reference population.
(2 SD below normal)


Slide 3

Reference values (adults) (I)
Parameter




Female

Male

RBC (x1012/L) 4.8+0.6 5.4+0.9
Hb (g/dL)
14+2
16+2
Htc (%)
42+5
47+5


Slide 4

Definition of anemia




Hb level of a patient which is below the normal
ranges of that age and sex.
For adults:
WHO criteria define anemia as
– hemoglobin





But:

<12 g/dL in women and
<13 g/dL in men

The reference values for red cells ,Hb or Hct may difer
according to






sex/age
Race
Altitude
Socioeconomical changes
Study/reference etc


Slide 5

BEUTLER andWAALEN BLOOD, 1 MARCH 2006 VOLUME 107, NUMBER 5


Slide 6

Age and blood count changes
Neutrophyls

Eos.

Baso

Lenfo

Mono

Hb

12 mo 6-17.5

1.5-8.5

0.05-0.7

0-0.20

4-10.5

0.05-1.1

11.1-14.1

4y

5.5-15

1.5-8.5

0.020.65

0-0.20

2-8

0-0.8

11.2-14.3

6y

5-14.5

1.5-8

0-0.65

0-0.20

1.5-7

0-0.8

11.4-14.5

10 y

4.5-13

1.8-8

0-0.60

0-0.20

1.5-6.5

0-0.8

11.8-15

21 y

4.5-11

1.8-7.7

0-0.45

0-0.20

1-4.8

0-0.8

E: 16
K: 14

age

WBC

WBC: x10E3/mm3 Hb:g/dL


Slide 7

Reference values (II)


Ret (% / n)

0.5-2.5 / 50-100x109/L



MCV (fl)

90+7



MCH (pg)

29+2



MCHc (g/dL)

34+2



RDW (%)

11.5-14.5


Slide 8

RBC

%

50

100

200

fl


Slide 9

RBC
RDW: Red cell distribution width

%

50

100

200

fl


Slide 10

RBC

%

50

100

200

fl


Slide 11

Reticulocyte
Normal Ranges
 Male: % 0.8 - 2.5
 Female: % 0.8 - 4.1

Increased counts
•Hemolysis
•Acute bleeding
•Response to treatment

Corrected Rtc: Patient Hb/Normal Hb x Rtc %

Reticulocytosis: > 100.000 /mm3


Slide 12

Diagnosis and investigation:





Is the patient anemic?
What is the type of anemia?
What is the cause of anemia?


Slide 13

Classification of anemia


Morphologic
– Normocytic: MCV= 80-100fL
– Macrocytic: MCV > 100 fL
– Microcytic : MCV < 80 fL



Pathogenic (underlying mechanism)
– Blood loss (bleeding)
– Decreased RBC production
– Increased RBC destruction/pooling


Slide 14

!!!!!


Plasma volume changes have to be
considered before determining a diagnosis
of anemia .
– Volume contraction:Underestimation of anemia
– Volume overload: Underestimation of Hb level


Slide 15

Volume changes/acute bleeding
and anemia
1

normal
Hct:Normal

2

Increased
plasma
volume
Hct: Low

3

Dehydration
Hct:Increased

4

5

Acute blood
loss(early)
Hct:unchanged

Chronic
anemia
Hct: Low


Slide 16

!!!!!


A normal Hb in a patient in whom an
elevated Hb level is expected may
represent anemia .(eg:COPD + Hb:N)


Slide 17

!!!!!!




Different red cell measures of a patient may
give discordant values in special conditions.
eg:Thalassemia trait

Low Hb, high RBC, low MCV,normal RDW

Hb: 10 g/dL (anemia)
RBC: 6.5 million/mm3 (erythrocytosis)
MVC : 65 fL
RDW: Normal


Slide 18

!!!!





Anemia is rarely a disease by itself,
It is mostly a manifestation or
consequence of an underlying
(genetic or acquired) disease.
The finding of anemia has to start
attempts to disclose an underlying
disease .
– What is the cause of anemia ?


Slide 19

Normocytic Anemias








Acute posthemorrhagic anemia
Hemolytic anemia
(except thalassemia
and some other Hb
disorders)
Aplastic anemia
Pure red cell aplasia
Bone marrow
infiltration









Endocrin diseases
Renal failure
Liver disease
Chronic disease anemia
Protein malnutrition
Hypovitaminosis C


Slide 20

Microcytic anemias







Iron deficiency anemia
Thalassemia
Sideroblastic anemia
Lead poisoning
Anemia of chronic diseases
(some cases)


Slide 21

Macrocytic anemias


Megaloblastic
– Oval macrocytes



Non-megaloblastic


Slide 22

Megaloblastic Macrocytic
Anemias





Vit B12 deficiency
Folic acid deficiency
Other.


Slide 23

Non-megaloblastic
Macrocytic Anemias
Anemia of acute
bleeding
 Hemolytic anemias
 Leukemias
(esp: acute)
 Myelodysplastic
syndromes
 Liver disease










Aplastic anemia
Diseases infiltrative
to the bone
marrow
Alcoholism
Hypothyroidism
Scurvy


Slide 24

Pathogenic classification
(Causes of anemia)





Relative (increased plasma volume)
Decreased RBC production
Blood loss
– Anemia due to acute bleeding



Increased RBC destruction


Slide 25

Pathogenic classification
(Causes of anemia)


Decreased RBC production
– Decreased Hb production
– Defective DNA synthesis
– Stem cell defects



Pluripotent stem cell
Erythroid stem cell(progenitors)

– Other less defined reasons



Blood loss

– Anemia due to acute bleeding




Increased RBC destruction
Relative(increased plasma volume)


Slide 26

Decreased Hb production






Iron deficiency anemia
Thalassemia
Sideroblastic anemia
Lead poisoning


Slide 27

Defective DNA synthesis





Vit B12 deficiency
Folic acid deficiency
Other.


Slide 28

Pluripotent stem cell defects



Aplastic anemia
Leukemia or myelodysplastic syndromes

Defective erythroid stem cell






Pure red cell aplasia
Anemia of chronic renal failure
Endocrin disease anemia
Congenital dyserythropoetic anemias


Slide 29

Decreased RBC production due to
multipl or undefined mechanisms





Anemia of chronic diseases
Bone marrow infiltration
Anemia due to nutritional defects


Slide 30

Anemias caused by
increased RBC destruction
(hemolytic anemias)

Can be classified as;
 Hemolysis due to intracorpuscular defects
 Hemolysis due to extracorpuscular defects
Or
 Hereditary hemolytic diseases
 Acquired hem. diseases
Or
 Intravascular hemolysis
 Extravascular hemolysis etc.


Slide 31

A Very Simple Classification of Hemolytic Anemias
1- Abnormalities of RBC interior
a. Enzyme defects
b. Hemoglobinopathies & Thalassemia M

Hereditary

2-RBC membrane abnormalities
a. Hereditary spherocytosis, elliptocytosis etc
b. Paroxysmal nocturnal hemoglobinuria
c. Spur cell anemia
3- Extrinsic factors
a. Hypersplenism
b. Antibody : immune hemolysis
c. Traumatic & Microangiopathic hemolysis
d. Infections , toxins , etc

Acquired


Slide 32

Is the patient anemic ?






RBC count
HB level
Hct level
Volume status


Slide 33

What is the type of
anemia?







History and physical exam.
RBC,HB,Hct ,
MCV, MCH,RDW
Red cell morphology ( peripheral smear)
Reticulocyte count
– Incresed ?



Other Lab. investigations


Slide 34

Lab. investigation of anemia(1)








WBC count and differential
Platelet count and morphology
ESR
Biochemistry, special tests and others
Bone marrow exam.(only when indicated)


Slide 35

Lab. investigation of anemia(2)


Serum values of
– Iron
– TIBC
– Ferritin
– Bilirubins
– Proteins / electrophoresis
– LDH
– Vit B12 and /or Folic acid
(None of these tests are routine screening tests)


Slide 36

Lab. Investigation of Anemia(3)



Liver, renal, endocrin functional tests
Urinalysis
– Hemosiderin



Occult GIS bleeding / parasites etc

(tests should be chosen individually-do not order routinly )
 Tests to diagnose the type of hemolytic anemia
– If hemolytic anemia is considered


Slide 37

Normocytic
anemia

Retic. count
normal/low

Secondary anemia
Renal, Hepatic,
Endocrin , Chronic
disease

Retic. count
increased

• No sign of secondary anemia

• Other signs of bone marrow
disease may be +

Response to
treatment

Hemolytic
anemia

(Normal marrow)
Hypoplastic
Marrow
AA, pure red
cell aplasia

Bone marrow
infiltrative diseases
Leukemia ,
Myelofibrosis
Metastatic disease

Dysplastic
marrow: MDS

Acute
bleeding


Slide 38

Microcytic
anemia
Serum iron
high

Serum iron
normal /high

Serum iron
decreased

Bone marrow iron
content and
sideroblasts

Hemoglobin
studies

Ferritin low

Ferritin:
Normal or
increased

Sideroblastic
anemia

Thalassemia , HbC
, others

Iron
deficiency

Anemia of
chronic
diseases


Slide 39

Macrocytic anemia

Peripheral smear
Retic. count

Retic. count
Normal/ decreased

Retic. count
Increased
Hemolysis

Megaloblastic

Acute
bleeding

Deficiencies of
VitB12 ,Folic acid
or other causes

Non-Megaloblastic
Liver diseases
Myelodysplastic syndrome
Bone marrow infiltration
Acute leukemia
Aplastic Anemia,
Alcoholism
Hypothyoidism etc


Slide 40

Case I




38 years old, ♀
Tiredness, hair loss, nail changes


Slide 41

Microcytic
anemia
Serum iron
high

Serum iron
normal /high

Serum iron
decreased

Bone marrow iron
content and
sideroblasts

Hemoglobin
studies

Ferritin low

Ferritin:
Normal or
increased

Sideroblastic
anemia

Thalassemia , HbC
, others

Iron
deficiency

Anemia of
chronic
diseases


Slide 42

Microcytic anemias
Diagnosis
(type of
anemia)

MCV

RDW

Serum
Iron

Iron
binding
capacity

Iron
deficiency
Thalassemia
Chronic
disease
anemia

N
N

RBC count:
Thalassemia minor >Iron deficiency

N

Ferritin

ESR/acute
phase
signs

Hemogl.
changes

May
change

None

Normal

May be
diagnostic

Elevated

None


Slide 43

Case I




38 years old, ♀
Tiredness, hair loss, nail changes


Slide 44

What is your diagnosis?


What is the next step?
– Prove iron deficiency


Serum iron, TIBC, Ferritin

– Find out the cause of iron deficiency


Chronic blood loss / excessive need-inadequate
intake
– Menstruel bleeding, Pregnancy
– GI bleeding
– Inadequate intake or malabsorbtion etc

– Treat both iron deficiency and the cause


Slide 45

Case II
26 y o
Slight symptoms
•Decreased excercise
tolerence
•Paleness
•Long history of being
anemic on routine
CBC’s ,non responsive
to iron
RBC:5.500.000/mm3
Hb: 10 g/dL
MCV: 60 fL
RDW: 14.3
Retic: %2
WBC: 5000/mm3
Plt: 200.000/mm3

Name the blood picture.
Further questions to ask to the patient?
Further tests to do ?
Ferritin : slightly elevated
HbA2: slightly elevated, Hb F: normal
Final Diagnosis ?


Slide 46

Case III
• 70 y o, male
•Fatigue, weakness
•Sore tongue, poor taste
sensation

•Papill. atrophy-beefy tongue
•Paresthesias
•Loss of position sense, ataxia
•Decreased deepWBC:
tendon
reflexes
Hgb:

2.300/µl
11 g/dL
3 units of red cellHct:
transfusion
%33
made before admission
MCV: 122 fL
MCH: 39pg
MCHC: %34
RDW: 30.5
Plt: 100.000/µl
Retic: 1%

Macrocytosis
Anisocytosis,
neutrophyl
hypersegmentation,
oval macrocytes


Slide 47

Macrocytic anemia

Peripheral smear
Retic. count

Retic. count
Normal/ decreased

Retic. count
Increased

Hemolysis
Acute bleeding

Megaloblastic
Deficiencies of
VitB12 ,Folic acid
or other causes

Non-Megaloblastic
Liver diseases
Myelodysplastic syndrome
Bone marrow infiltration
Acute leukemia
Aplastic Anemia,
Alcoholism
Hypothyoidism etc


Slide 48

What is the blood picture ?
(The type of the disorder)


What is your diagnosis?
– Why?


Slide 49

Normocytic
anemia

Retic. count
normal/low

Secondary anemia
Renal, Hepatic,
Endocrin , Chronic
disease

Retic. count
increased

• No sign of secondary anemia

• Other signs of bone marrow
disease may be +

Response to
treatment

Hemolytic
anemia

(Normal marrow)
Hypoplastic
Marrow
AA, pure red
cell aplasia

Bone marrow
infiltrative diseases
Leukemia ,
Myelofibrosis
Metastatic disease

Dysplastic
marrow: MDS

Acute
bleeding


Slide 50

60 y o
Normocytic anemia
Reticulocytes: 1%

Pale, pruritus,
hypertension
Urea + creatinin
elevated

?

Hoarse voice
Lethargy
Hair loss
Dry skin
Weight gain
Poor memory
Bradycardia

?

Symmetric polyarthritis
Morning stiffness
Sc nodules

?


Slide 51

Case IV
• 65 y o , male
•One month history of fever, cough and hemoptysis
• ESR: 80mm/h; high CRP
•Sputum + for TBC bacteria; chest x-ray shows right apical infiltrate
Normocytic anemia, MCV normal,
RDW ↑,
What is the type of anemia?

What is the diagnosis?
•This case could also present as a
microcytic anemia .What would you
expect from the iron studies in that
Retic.: 2%

situation?
Low iron, Low TIBC, High Ferritin


Slide 52

Normocytic
anemia

Retic. count
normal/low

Secondary anemia

Renal, Hepatic,
Endocrin , Chronic
disease

Retic. count
increased

• No sign of secondary anemia

• Other signs of bone marrow
disease

Response to
treatment

Hemolytic
anemia

Acute
bleeding

(Normal marrow)
Hypoplastic
Marrow
AA, pure red
cell aplasia

Bone marrow
infiltrative diseases
Leukemia ,
Myelofibrosis
Metastatic disease

How to decide
the next step?

Dysplastic
marrow: MDS

History

PE
Smear
Other tests


Slide 53

Case IX
67 y o, male
•Anemia symptoms
•Severe bone pain
CBC
•Normocytic anemia
What is your possible diagnosis?
What is the next step?
•ESR:>100mm/h
•Hypercalcemia
•Hyperglobulinemia
•Renal failure


Slide 54

Morphologic abnormalities in hemolytic anemias
• Sickle cell:

Sickle cell anemia

• Target cels:

Thalassemia, HbC disease, liver disease,
splenectomy

• Schistocytes:

Microangiopathic hem anemia, uremia, DIC,

malignant hypertesion, eclampsia,
disseminated vasculitis or malignancy,
• Agglutination:

Cold agglutinin disease

• Heinz bodies:

Unstable Hb, G6PD deficiency and oxidant stress


Slide 55

Special Lab. Examinations









Coombs antiglobulin test - immune hemolysis
Osmotic fragility test - spherocytosis
Autohemolysis- G6PD,PK, spherocytosis
Red cell enzyme assays- RBC enzyme defects
Membrane protein analysis- membrane defects
Red cell sickling, HbS- sickle cell anemia
Hemoglobin electrophoresis and HbA2, Hb F , HHb,etc -

Hemoglobinopathies and thalassemias




HAM and sucrose lysis tests and GPI-linked protein
analysis by flow cytometry- PNH
Oxygen dissociation curve- High oxygen affinity Hb


Slide 56

Case V
18 y o , male
Weakness, paleness, slight
icterus, splenomegaly, bile stones
Family history +
WBC: 5600/µl
Hgb: 9,6 g/dL
MCHC: %37
Plt: 300.000/µl
Retic: %9

?

Ind Bil: slightly elevated
LDH: elevated
Haptoglobin : low
Red cell osmotic fragility increased

Normal RBC
spherocyte

?


Slide 57

Case VI
38 y o
Cough , fever

WBC: 12.000/µl
Hgb: 11 g/dL
Hct: 22 %
MCV: 130
MCH: 40
MCHC: 36
RDW:28
Plt: 160.000/µl


Slide 58


Slide 59

Case VII
34 y o, male
2-3 weeks history of

•Decreased exercise capacity
•Paleness
•Headache, sore throat

2 days history of

•Cough and fever
•Red spots on the skin

CBC
WBC: 33.000/mm3
Hb: 7 g/dL
Retic: 1%
Plt: 12.000/mm3


Slide 60

Case IX
60 y o, female
Sudden onset

Pallor, palpitation
Slight scleral icterus
splenomegaly

CBC
Hb: 8 g/dL
WBC: 10.000/mm3
Plt: 450.000/mm3
Retic: 10%
What is your diagnosis?
What is your next step?

Indirect bilirubin: high
LDH: high
Haptoglobin: low
D/I: Coombs +


Slide 61

Case X
70 y o , male

•Under examination for
prostat enlargement

+One month history of
•Bone pain
•Symptoms of anemia

WBC: 8000/mm3
Hb: 8 g/dL
MCV: 88 fL
RDW: 14
Retic: 2%
Plt: 220.000/mm3


Slide 62

Morphologic abnormalities in hemolytic anemias


Polychromasia: Reticulocytes



Spherocyte :

Hereditary spherocytosis, immune hem. anemia,
burns, chemical injury to RBC



Elliptocytes:

Hereditary ovalocytosis,



Stomatocytes: Hereditary stomatocytosis, alcoholism



Acanthocytes: Spur cell anemia with liver disease,
abetalipoproteinemia



Echinocytes:

Pyruvate kinase deficiency, uremia