Anemias

By
Dr.Hydi Ahmed
Associate professor of Clinical
Pathology

Normal Hemopoiesis

ANAEMIA
Reduction
in
the
concentration of haemoglobin in the
blood below the lower limit of normal
for a particular age and sex of an
individual in a particular environment
Definition:

Value of Haemoglobin less than

13.5 g/dl in males, less than 11.5 g/dl
in females and less than 15.0 g/dl in
new borns would indicate anaemia

ADULT REFERENCES OF RED BLOOD

CELLS
_________________________________________________
Male

Female

________________________________________________
_
Haemoglobin (g/dl)
11.5 15.5

13.5 17.5

Haematocrit ; PCV (%)

48

40 -52

RBC count(X1012/l)
3.9 5.6

4.5 6.5

Mean Cell Volume

80 - 95
MCV (fl)

80 -95

Mean Cell HAmeoglobin

27 -34

36

SYMPTOMS AND SIGNS OF ANAEMIA

Symptoms of Anaemia:

Level of haemoglobin at
which patient develops
symptoms depends on the rate of development of
anaemia. If haemoglobin has been falling slowly,
symptoms occur late,and if haemoglobin falls rapidly,
symptoms occur early.
Patient may present with generalized weakness and
easy fatigability.
Palpitation and breathlessness occur if anaemia is
severe or patient has underlying heart disease.
Anorexia and indigestion are common
Signs of Anaemia:
Pallor is the main sign. Usual sites to look for pallor
are the nail bed, hands , skin, lower conjunctiva.
Koilonychia(spoon shaped nails) is seen in iron
deficiency anameia
Bone deformities occur in thalassaemia major
Leg ulcers are a feature of sickle cell anaemia
Systolic Murmur may be audible in pulmonary area
Mild jaundice may occur in haemolytic anaemia.
Different other signs and symptoms can be ascribed
to a specific cause of anameia

CLASSIFICATION OF ANAEMIA

1. Kinetic Classification of
Anaemias
2. Morphologic Classification of
Anameias

KINETIC CLASSIFICATION OF
ANAEMIAS
I. ANAEMIAS DUE TO EXCESSIVE BLOOD LOSS

(i) Acute blood loss anaemia

(ii) Chronic blood loss anaemia
II. ANAEMIAS DUE TO PRODUCTION FAILURE
(i) Haematenic deficiency: Iron, Folic

Acid and

B12 deficiency
(ii) Anaemia of chronic disorders: Infection,
inflammation, neoplasia; renal failure
(iii)Marrow Hypoplasia: Aplastic Anaemia;
Pure red cells Aplasia
(iv)Marrow Infiltration: Leukaemias;
Lymphomas; Myeloproliferative disorders;
Myelodysplastic Syndrome

III ANAEMIAS DUE TO EXCESSVIE RED CELLS DESTRUCTION

(HAEMOLYTIC ANAEMIA)

1. HAEMOLYSIS DUE TO RED BLOOD CELLS

ABNORMALITY
(Intracarpuscular Defect)
Congenital
a. Red blood cells membrane defects: Hereditary
Spherocytosis
b. Enzyme defects: G.6PD Deficiency
c. Haemoglobinopathies: Thalassaemia; Sickle Cell
Anaemia
Acquired
d. Paroxysmal Nocturnal Haemoglobuniria
2. HAEMOLYSIS DUE TO ABNORMALITY OUTSIDE THE
RED BLOOD CELL (Extracarpuscular)
a. Immune Haemolytic Anaemias:
(i) Autoimmune HAemolytic Anaemia
(ii)Alloimmune Haemolytic Anaemia
b. Non Immune:
(i)Malaria
(ii)MIcroangiopathic Haemolytic Anaemia

MORPHOLOGIC CLASSIFICATION OF ANAEMIAS

Causes of Microcytic and Hypochromic Anameias
Iron Deficiency Anaemia- 1
Thalassaemias-2
.2
Anaemia of Chronic Disoder-3
Sideroblastic Anaemia-4

(MCV Less than 80 fl)

.1
.3
.4

Causes of Normocytic and Normochromic Anaemias (MCV 80 to 95

fl)
Many Haemolytic Anameias. 1
Anaemia of Chronic Diseases. 2
Acute blood loss. 3
Mixed Deficiency Anaemia. 4
Aplastic Anaemia. 5
Bone marrow infiltration as in Lymphomas, Leukameias,etc . 6

Causes of Macrocytic Anaemias

.
(MCV More than 95 fl)
1- Megaloblastic Macrocytic Anameias
Megaloblastic Anameia
2- Non megaloblastic Anameia
1. 1-Haemolytic Anaemias ( Reticulocytes will appear as Macrocytic cells)
2-Liver Disease
3. Alcohol
4-Aplastic Anaemia

IRON DEFICIENCY ANAEMIA

Iron deficiency anaemia is the most common
.cause of anaemia in every country of world
It is the most important cause of a microcytic
hypochromic anaemia, in which all the three red
blood cell indices (the MCV, MCH and MCHC) are
reduced, and the blood film shows
small(microcytic) and pale (hypochromic) red
cells
The important causes of microcytic hypochromic
:anaemia are
Iron deficiency anaemia( i)
Thalassaemias( ii)
Sideroblastic anaemia( iii)
Anaemia of chronic disorder( iv)

The causes of a hypochromic microcytic anaemia. These include

lack of iron (iron deficiency), or of iron release from
macrophages to serum (anaemia of chronic inflammation or
malignancy). Failure of protoporphyrin synthesis (sideroblastic
.anaemia) or of globin synthesis (Alpha or Beta Thalassaemia)

CAUSES OF IRON DEFICIENCY ANAEMIA

I. CHRONIC BLOOD LOSS:
(i)

Uterine Bleeding:
-Menorrhagia (excessive menstrual bleeding).
- Postmenopausal bleeding.
(ii) Gastrointestinal Bleeding:
- Peptic Ulcer
- Bleeding Haemorrhoids
- Hookworm infestation
Aspirin
or
other
nonsteroidal
antiinflammatory
drugs ingestion
II. INCREASED DEMAND:
Increased iron demand
during
infancy,
adolescence,
Pregnancy, lactation and in menstruating women
III. MALABSORPTION:
Gluten Induced Enteropathy; Gastrectomy
IV. DIETRY:
Especially vegetarian diet

CLINICAL FEATURES OF IRON DEFICIENCY

ANAEMIA
The patient develop the general symptoms and signs of
anaemia and also show a painless glossitis, brittle, ridged
or spoon shape nails (koilonychia), dysphagia (as a result
. of pharyngeal webs)
Patients also show unusual dietary craving( perverted
appetite e.g., clay eating)
In children the iron deficiency is particularly significant, as
it can cause irritability, poor cognitive function, decline in
psychomotor development and learning . Child with iron
deficiency anameia can also show behavioral problems

Koilonychia: typical spoon

shaped nails

IRON DEFICIENCY: LABORATORY DIAGNOSIS

pheral Blood Findings

moglobin is decreased(i)
cells indices )MVC;MCH;MCHC( are( ii)
eased
Blood Cells Morphology: Microcytic and( iii)
chromic red cell morphology with pencil
ed poikilocyttes. Red cells morphological
ges are proportional to degree of anaemia
let count is often moderately raised( iv)
cularly in cases of localized bleeding site (reactive
mbocytosis
ses of worm infestation there can be Eosinophilia( v)

hemical Findings

m
m
m
m

iron is decreased(i)
Total Iron Binding Capacity (TIBC) is increased( ii)
Ferrritin is decreased( iii)
transferrin saturation is decreased( iv)

e Marrow Findings

roid Hyperplasia; Erythroblasts are small (micronormoblasts) and ( i)

ragged cytoplamic outlines
Stain: Iron will be absent in stores as well as in erythroid series ( ii)

Pencil Shape Red cell

Red Blood Cells Morphology: Microcytic and

Hypo chromic red
. cell morphology with pencil shaped poikilocyttes
Red cells morphological changes are proportional to degree of
.anaemia

MEGALOBLASTIC ANAEMIAS
This is a group of anaemias due to
impaired DNA synthesis, the
erythroblasts in the bone marrow show
a characteristic abnormality
maturation of nucleus being delayed
relative to that of cytoplasm
( megaloblast)
In megaloblast the nuclear chromatin
maintains an open, stippled, lacy
appearance despite normal
haemoglobin formation in the
cytoplasm of the erythroblasts, as they
mature
Two main deficiencies lead to
megaloblasstic anaemia

VITAMIN B 12 AND FOLATE - COMPARISON

VITAMIN B 12

FOLATE

CONTENTS IN
FOOD

Vegetables
Poor
Meat Rich

Vegetables Rich
Meat Moderate

EFFECT OF
COOKING

10 -30 % loss

60 90 % loss

SITE OF
ABSORPTION

Ileum

Duodenum &
Jejunum

NEUROLIGCAL
An Important
MANIFESTATIONS feature

Absent

MALNUTRITION

Unusual

Most common
cause of Folate
deficiency

ONSET

Rapid Onset
(Takes weeks)

Slow (Takes
years)

PATHOGENESIS OF HOW B12 AND FOLATE

DEFICIENCY PRODUCE MEGALOBLASTIC ANAEMIA

k of Vitamin B12 or Folate causes slowing of DNA synthesis in developin

ythroblasts with an accumulation of cells in premitotic phase of cell cycl
e neutropeina and thrombocytopenia also appears to result from ineffec
d abnormal precursor cells in the marrow due to impaired DNA synthes

CAUSES OF VITAMIN B12 DEFICIENCY

1.Decreased intake of Vitamin B12:
Nutritional deficiency (Vegetarians)
Impaired absorption of Vitamin B12:
(i) Pernicious Anaemia ( Lack of Intrinsic
Factor;
Antibodies against Intrinsic
Factor)
(ii) Gastrectomy( No release of Intrinsic
Factor)
2.

3.

Intestinal Causes:
(i) Lesions of small intestine
(ii) CoeliacDisease
(iii) Tropical Sprue
(iv) Fish Tapeworm( DIphylobothium Latum)
infestation

CAUSES OF FOLATE DEFICIENCY

1.

Decreased intake of Folic Acid:

Nutritional Deficiency

2.

Impaired Absorption of Folic Acid:

(i)Coeliac Disease
(ii)Tropical Sprue

3.

Increased demand:
(i) Pregnancy
(ii) Haemolytic Anaemias
(iii) Myeloproliferative disorders
(iv) Carcinoma
(v) Inflammatory disorders
(vi) Skin diseases

4.

Drugs:
Dihydrofolate reductase inhibitors

CLINICAL FEATURES OF MEGALOBLASTIC ANAEMIA

The onset is usually
insidious with gradually
progressive symptoms and
signs of anaemia. The patient
may be mildly jaundiced
(lemon yellow tint) due to the
Glossitis: tongue is beef
excess breakdown of
red and painful
haemoglobin resulting from
ineffective erythropoiesis in
the bone marrow
Glossitis , sore tongue and
stomatiitis
Mild symptoms of
Angular stomatitis
malabsorption with loss of
weight may be present due to
epithelial changes
Lethargy, breathlessness and

Vitamin B12 Deficiency:

1-VITMAIN B 12 NEUROPATHY:
B12 deficiency may cause a progressive
neurtopathy
affecting the peripheral sensory nerves,The
neuropathy is symmetrical and affects the lower
limbs more than the upper limbs. The patient
notices tingling in the feet, difficulty in walking and
may fall over in the dark. Rarely optic atrophy or
psychiatric symptoms (Megaloblastic Madness) are
present
NUERAL TUBE DEFECT-2
Supplementation of maternal diet with folic acid
during
Pregnancy reduces the incidence of neural tube
defect
:CARDIOVASCULAR DAMAGE-3

Lab Diagnosis of Megloblastic

Anemia
1.Peripheral blood
finidngs
2. Bone Marrow Findings
3. Special Tests
1.

Peripheral Blood Findings

a. Anaemia
b. Pancytopenia (Anaemia + Leucopenia+
Thrombocytopnia)
c. RBC Morphilogy:Macrocytosis (Oval Macrocytes)
d. Hypersegmented Neutrophils: Neutrophils hypersegmentation
is present when more than 5% of the neutrophils have
5 lobes or the
film show at least one sixed lobed neutrophils
Hyerpsegmentation is early sign of Vitamin B12 or
folate deficiency
deficiency, and is useful in the diagnosis of
megaloblastosis with

Bone Marrow Findings in Megaloblastic Anaemia .. 2

a. ERYTHROPOIESIS :
- Megaloblasts All the nucleated series of erythroid cells
show
megaloblastic change
- Their abnormal appearance is due to disturbance of cell
growth and
maturation, resulting from interference with DNA
synthesis.
- Cells are larger than erythroblasts
- Dissociation of Cytoplasmic and Nulcear maturation:
Maturation of
nucleus lags behind that of cytoplasm .
Haemoglobinization of
cytoplasm takes place while nucelus is immature
- Dyserythropoiesis : Increase in the proportion of more
primitive cells
b. LEUCOPOIESIS
- Shift to right is observed
- Giant Metamyelocytes are seen
c. MEGAKARYOPOIESIS
- Megakaryocytes are normalor decreased

3. Special Tests:
1. Serum Vitamin B12- Decreased
2. Serum Folic Acid-Decreased

:Macrocytic Anemia (Meg.)

: Megaloblastic Anemia
Oval macrocyte

Hypersegmented Neutrophils

Reticulocyte count
More than 2.5% :
(more than
normal)
1-Hemolysis
2-Hemorrhag

Less than 2.5%(normal and

below normal)
According to RBCs morphology
either
a.

Normocytic
1-Chronic disease
2-BM problems

b. Microcytic:
1-Iron deficiency anemia
2- Thalassemia
3-Sideroblastic anemia
4-Anemia of chronic disease
C. Macrocytic anemia;
1-B12 deficiency
2- Folic acid deficiency

Anemia of chronic disease (Anemia

of chronic disorders (ACD)

29

Definition of anemia of chronic

disorders
-The anaemia of chronic disease (ACD) is a
common normochromic or mildly
hypochromic anaemia that occurs in
patients with a systemic disease . It is
characterized by a reduced serum iron
and iron-binding capacity, and normal or
raised serum ferritin with adequate iron
stores .It is not due to marrow
replacement by tumour, bleeding,
haemolysis or haematinic deficiency,
although these often complicate it.

Conditions associated with anaemia of chronic

.disorders
1-Chronic infections:
Especially osteomyelitis, bacterial endocarditis,
tuberculosis,abscesses, bronchiectasis, chronic
urinary tract infections,osteomyelitis, HIV
2-Other chronic inflammatory disorders:
Rheumatoid arthritis, juvenile rheumatoid
arthritis, polymyalgia rheumatica, systemic lupus
erythematosus, scleroderma,inflammatory bowel
diseases, thrombophlebitis, severe trauma
3-Malignant diseases:
Carcinoma (especially metastatic or associated with
infection),lymphoma, myeloma
4-Others:
Congestive heart failure, ischaemic heart disease,
AIDS

Anemia of chronic disease (ACD) pathogenesis (1)

I- Inhibition of erythropoiesis
Shortened red cell life span, moderately 20-30%
(from 120 to 60-90 days)
Relative bone marrow(erythropoiesis) failure
- Cytokines released from inflammatory cells
(TNF-,
IL-1, IL-6, IFN-) affects erythropoiesis by
inhibiting the
growth of erythroid progenitors
- Serum erythropoietin levels in patiens with ACD
are
normal when compared to healthy subjects but
32
much

Anemia of chronic disease (ACD) pathogenesis (2)

33

II- ABNORMAL IRON METABOLISM

Activation of the reticuloendothelial
system with increased iron retention
and storage within it
impaired release of iron from
macrophages to circulating transferrin
(impaired reutilization of iron)
Reduced concentration of transferrin
(decreased production, increase
sequestration in the spleen and in the
foci of inflammation, increase loss )

Anemia of chronic disease (ACD) Diagnosis

Symptoms of the underlying disease
Symptoms of the anemia
The anemia is usually mild or moderate ( Hb 711g/dl)
- lower values are observed in 20-30% of patients
The anemia is most often normochromic and
normocytic (MCHC and MCV are normal) or
microcytic.
. Erythrocyte sedimentation rate (ESR) - usually
raised
Reticulocytes - most often normal
34

Anemia of chronic disease

(ACD) -laboratory features(2)
Iron metabolism
1. Serum Iron - decreased (it is necessary for the
diagnosis of ACD)
2. TIBC - reduced or low-normal (N)
3. Transferrin saturation(TS) - moderately decreased (
higher than in iron-deficiency anemia), usually > 10%
4. Serum Ferritin-increased or normal
5. Serum Transferrin Receptor (sTR)-Normal
6. Sideroblasts in the bone marrow-reduced (5-20%)

35

Advantage of anemia in chronic

disorders
Withdrawal of iron by increased storage of the metal within the reticuloendothelial
system acts to limit the availability of iron to
microorganisms or tumor cells and thereby
inhibit their growth and proliferation
- Decreased hemoglobin reduces the
oxygen transport capacity of the blood and
decreases the overall oxygen supply, which
may primarily affect rapid proliferating
(malignant) tissues and micro-organism

HAEMOLYTIC
ANAEMIAS

HAEMOLYTIC ANAEMIAS

The distinguishing feature of all haemolytic anaemias is

the increased rate of red cells destruction
NORMAL RED CELL DESTRUCTION
Red cells destruction usually occurs after a mean lifespan
of 120 days when the cells are removed extravasularly by
the macrophages of the reticuloendothelial system ,
(Extrvascular Haemolysis) especially in the marrow
but also in liver and spleen. As the red cell have no
nucleus, red cells metabolism gradually deteriorates as
enzymes are degraded and not replaced and the cells
become non- viable. The breakdown of haem from red cells
liberates iron for recirculation via plasma transferrin to
marrow erythroblasts, and protoporphyrin which is broken
down to biilrubin. This circulates to the liver where it is
conjugated to glucuronides which are excreted into the gut
via bile and converted to stercobilinogen and stercoblin
(excreted in faeces). Strecoblinogen and stercolbilin are
partly reabsorbed and excreted in urine as urobilinogen
and urobilin. Globin chains are broken down to amino acids

red cell breakdown- Extravascular: This takes place extravascullar

macrophages of the reticuloendothelial system

scualar Haemolysis: Occurs in some pathological disorders

INTRAVASCUALR AND EXTRAVASCULAR

HAAMOLYSIS
There are two main mechanisms by which a red cells are
destroyed in haemolytic anaemias- Extravascular or
Intravascular. In majority of the anaemias the destruction is
extravascular.

Causes of Extravascular Haemolysis

1.Haemoglobinopathies
Thalassaemias
Sickle Cell Anaemia
2.Hereditary Spherocytosis
3. Autoimmune Haemolytic Anaemias
4. Malaria
5. G6PD deficiency

Causes of Intravascular Haemolysis

1. ABO mismatched blood transfusion
2. Malaria
3. PNH
4. G6PD deficiency

INTRODUCTION TO HAEMOLYTIC ANAEMIAS

Haemolytic anaemias are defined as those
anaemias which result from an increase in the
rate of red cell destruction. Because of
erythropoietic hyperplasia and anatomical
extension of bone marrow, red cells
destruction may be increased several- fold
- before the patient becomes anaemic
compensated haemolytic disease. The normal
adult marrow, after full expansion, is able to
produce red cells at six to eight times
provided this is effective. Therefore
haemolytic anaemia is not seen unless the red
.cells life span is less than 30 days

CLASSIFICATION OF HAEMOLYTIC ANAEMIAS

Hereditary Haemolytic Anaemias
result of intrinsic red cell defects

are

the

whereas
Acquired haemolytic anameias are usually
the result of anextracarpuscular defect or
environmental change. Paroxysmal Nocturnal
Haemoglobinuria (PNH) is an exception
because it is an acquired disorder but the
PNH cells have an intrinsic defect

LABORATORY FINDINGS IN HAEMOLYTIC

ANAEMIAS
The laboratory findings in haemolytic
anaemia are conveniently divided in three
groups
1. Features of Increased Haemoglobin
Breakdown
i. Jaundice and Hyperbilirubenemia
ii. Reduced plasma Haptoglobin and
Haemopixin
iii. Increased serum LDH
Evidence
iv. Haemoglobinemia
of
Intravascular
v. Haemoglobinuria
Haemolysis
vi. Methhemoglobinemia
vii. Haemosidrinuria

Features of Increased Red cells Production

Compensatory Erythroid Hyperplasia)
i. Reticulocytosis
ii. Macrocytosis and Polychromasia
iii. Erythroid hyperplasia of marrow
iv. Radiological changes in bones (seen
only in
congenital anaemia)
2.

3. Feature of Damage to Red Cell:

i. Spherocytes
ii. Increased red cells fragility
iii. Red blood cells fragmentation.

HAEMOGLOBIN DISORDERS
OR
HAEMOGLOBINOPATHIES

moglobin disorders result from:

duced synthesis of normal Alpha or Beta globin chains

-Alpha Thalassaemias
Beta Thalassaemias

nthesis of an Abnormal Haemoglobin

Crystaline Haemoglobin (HbS, C, D, E, O etc)
(These are produced due to amino acid substitution
Unstable Haemoglobin

THALASSAEMIA
The Thalassaemias are a heterogeneous group of genetic
disorders of haemoglobin synthesis all of which result
from reduced rate of production or absence of production
of one of the globin chains of haemoglobin
According to globin chain, which is
produced in reduced amount, thalassaemias
are divided into two important groups:
(i) Beta ( ) Thalassaemias: Due to reduced synthesis
or absence of synthesis of Beta globin chains.
(ii) Alpha (
) Thalassaemias: Due to reduced
synthesis or
absence of synthesis of alpha globin chains.
- In Beta thalassaemia the beta chain synthesis is
decreased or absent but there will be unimpaired
synthesis of Alpha chains
-In some thalassaemias no globin chain is synthesized at
all and hence are called 0
or .. 0 thalassaemias,
whereas in others some amount of globin chain is
produced but at a reduced rate; these are designated as

CLINICAL AND GENETIC CLASSIFICATION

OF THALASSAEMIAS
I. BETA () THALASSAEMIAS: (Defects in transcription,
processing or translation of beta- globin mRNA
1. Beta Thalassaemia Major:)
-Homozygous state
-Severe anaemia; requires regular blood transfusions

of

2. Beta Tahlassaemia Minor( Trait)

- Heterozygous state
- Asymptomatic with mild or no anaemia; red cell
abnormalities seen.
- Defects in transcription, processing or translation
beta- globin m RNA

3. Beta Thalassaemia Intermedia:

-One parent beta thalassaemia minor other parent
contributes a gene which lessens the
deleterious effects.
- Severe, but does not require regular blood
transfusions.

II.ALPHA

THALASSAEMIAS:

deletion of genes

Defect

is

mainly

(i) Alpha Thalassaemia Silent Carrier( - /)

Asymptomatic; no red cells abnormality
(ii) Alpha Thalassaemia trait ( -/-) or (--/)
Asymptomatic like beta thalasseamia trait
(iii) HbH Disease --/-
Severe resembles beta thalassaemia intermedia
(iv)Hydrops Fetalis (- - / - -)
Lethal in utero

In Beta Thalassaemia Major there is a total

lack or a reduction in the synthesis of
structurally normal beta- globin chains with
.unimpaired synthesis of Alpha chains

CLINICAL FEATURES OF BETA

THALASSAEMIA MAJOR
1.Severe anaemia with failure to thrive on 3-7
months of age after birth
2. Enlargement of spleen occurs due to
excessive red cells
destruction, extramedullary haemopoiesis and
later because of iron overload. The large
spleen increases
blood transfusion requirements due to
increased pooling of blood.
3. Liver also increased in size.
4.Expansion of bones caused by intense marrow
hyperplasia that leads to Thalassaemic Facies
and to thinning of the cortex of many bones
with a tendency to fractures and bossing of
the skull .
5. Infections induced by blood transfusion:

The facial appearance of a child with beta

-thalassae
mia major: Skull is bossed with prominent frontal
and parietal bones; the maxilla is enlarged

The skull X- ray in Beta Thalassaemia

Major: There is a hair on-end
appearance as a result of expansion
of the bone marrow into cortical bone

tient requires regular blood

ons to sustain an acceptable
obin level. But iron overload
y repeated transfusions is inevitss chelation therapy (removal of
iven. Each 500 ml of transfused
ntains about 250 mg of iron.Iron
excessive red blood cells break
d increased gastrointestinal iron
on also leads to increased iron in
.
overload then effects different

Cirrhosis Fibrosis) will take place.

rine Organs: Accumulation of iron in different organs will lead to
growth, delayed or absent puberty, diabetes mellitus,
oidism and hypoparathyroidism.
ge to Myocardium can lead to arrhythmias and cardiac failure.
diac damage is the main cause of death

LABORATROY DIAGNOSIS OF BETA

THALASSAEMIA MAJOR

eripheral blood film will show severe microcytic and

pochromic blood picture with marked pokilocytosis
agmented red cells; target cells)

Reticulocytes count is increased.

eripheral blood shows normoblasts

Beta Thalassaemia Major

Microcytic and
hypochromic blood
picture
& Marked anisocytosis
Poikilocytosis
Nucleated RBC
Fragmented red ells

LABORATROY DIAGNOSIS OF BETA THALASSAEMIA MAJOR..

contd
4. Haemoglobin electrophoresis shows accentuated
band of HbF(Fetal Haemoglobin)

5. Fetal Haemoglibin estimation by alkali

denaturation method will show elevated HbF
6. DNA Analysis by Polymerase Chain Reaction (PCR)
to look for molecular lesion (mutation or deletion)
7. Prenatal Diagnosis: During pregnancy fetus can
be diagnosed by taking Chorionic Villus
Sample(CVS) of fetus and then to do PCR to find
out that whether fetus is normal or he is having
mutations which can lead to beta thalassaemia
major or minor.

Haemoblobin Electrophoresis on Cellulose Acetate

for Haemoglobin Defects

Normal Haemoglobin Electrophoretic Pattern

Beta Thalassaemia Major

Thalassaemics receiving blood transfusion

at a thalassaemia center

BETA THALASSAEMIA MINOR (TRAIT)

It is a heterozygous state. The person is carrying
abnormal genes from one parent and normal from
other.
It is a common, usually symptom less abnormality
characterized by a hypchromic,microcytic blood picture
(MCV and MCH very low) with many target cells and
minimal anisocytosis. The red cell count
(RBC count) is high (More than 5 X1012/l, and mild
anaemia (Haemoglobin 10 15 g/dl)
The HbA2 level is increased (More than 3.5%; Range
4-6 %)
During periods of stress, such as pregnancy or
infection the patient can become anaemic.

It is important to identify cases of Beta

Thalassaemia Minor in a community where
Thalassamia is prevalent and where there is
increased tendency of cousin marriages, so as
to give proper genetic counseling before

D/D OF MICROCYTIC AND HYPOCHROMIC

lood film in Beta Thalasaemia

Major: Microcytic and Hypochromic
ith fragmented red cells, target
ells and nucleated red cells(normoblasts)

Blood Film in Iron Deficiency

Anaemia: Microcytic and hypochromic blood
Picture with pencil- shape cells

Blood film in Beta Thalasseamia

Minor (Trait): Microcytic and
hypochromic blood picture with many
target cells and absence of
anisocytosis

BLOOD PICTURE

Iron Deficiency

Vs

Beta Thalassaemia
Trait