LECTURE 15 anemia.pptx

BLOOD
DR.VIVEKVASOYA
DR.VIVEK VASOYA

INTRODUCTION:-
 RBC:- SIZE - 7.2 µm in diameter
thickness – 2.4 µm at periphery and 1 µm in
the centre.
 SHAPE :-biconcave
 Life span:- 120 days
 Haemoglobin- 90% weight of RBC is due to
Hb
 Normal value :- 4.5 to 5.5 million/mcL
DR.VIVEK VASOYA

PCV:-
 Packed cell volume
 it means value of RBC per litre of whole
blood.
 Normal value :-40.7% to 50.3% for men
36.1% to 44.3% for women.
DR.VIVEK VASOYA

MCV:-
 Mean corpuscular volume
 Average volume of red cells.
 MCV = PCV in L/L
RBC count/L
DR.VIVEK VASOYA

MCH:-
 Mean corpuscular haemoglobin.
 Average haemoglobin present in one RBC.
 MCH = Hb/L
RBC count/L
DR.VIVEK VASOYA

MCHC:-
 Mean corpuscular haemoglobin
concentration
 Average concentration of Hb in given volume
of blood
 MCHC = Hb/L
PCV in L/L
DR.VIVEK VASOYA

Haemoglobin:-
 Haemoglobin = heam + globin
 Normal range= 13 to 18g/dl in male
11.5 to 16.5g/dl in female.
DR.VIVEK VASOYA

definition
 It is define as a haemoglobin concentration in
blood below the lower limit of the normal
range for the age and sex of the individual.
 Anaemia may be define as decrease in the
number of erythrocytes and haemoglobin
level of blood .
 Normal limit of Hb is 13g/dl for male and 11.5
g/dl for females.
DR.VIVEK VASOYA

Pathophysiology
 Subnormal level of haemoglobin cause lowered
oxygen carrying capacity of the blood.
 This ,initiates compensatory physiological
adaptation such as follows....
1. Increased release of oxygen from haemoglobin.
2. Increase blood flow to the tissue.
3. Maintenance of blood volume.
4. Redistribution of blood flow to maintain the
cerebral blood supply.
Eventually tissue hypoxia develops causing
impaired function of the affected tissue.
DR.VIVEK VASOYA

Clinical feature
 The haemoglobin level at which symptoms and
sign of anaemia develop depends upon 4 main
factors...
1. The speed of onset of anaemia: rapidly
progressive anaemia cause more symptoms
than anaemia of slow-onset as there is less time
for physiologic adaptation.
2. The severity of anaemia:- mild anaemia
produce no symptoms or sign but a rapidly
developing severe anaemia may produce
significant clinical features.
DR.VIVEK VASOYA

3. The age of the patient:-the young patients
due to good cardiovascular compensation
tolerate quite well as compared to the
elderly.The elderly patients develops cardiac
and cerebral symptoms more prominently
due to associated cardiovascular disease.
4. the haemoglobin dissociation curve.:- the
affinity of haemoglobin for oxygen is
depressed. so oxyhaemoglobin dissociation
curve to the right.
DR.VIVEK VASOYA

symptoms
• Tiredness
• Easy fatiguability
• Generalised muscular weakness
• Lethargy
• Headache
• tingling and numbness of extremities.
• Soreness of the tongue
DR.VIVEK VASOYA

Sign:-
1. Pallor:-pallor is the most common and
characteristic sign which may be seen in the
mucous membranes , conjunctivae and skin.
2. Cardiovascular system:-
 tachycardia,
 collapsing pulse,
 cardiomegaly,
 midsystolic flow murmur,
 dyspnoea on exertion ,
 in elderly pt congestive heart failure.
DR.VIVEK VASOYA

3. Central nervous system:-the older pts may
develop....
 Faintness,
 Giddiness,
 Headache,
 Tinnitus,
 Drowsiness,
 Numbness and tingling sensation in hands
and feet
DR.VIVEK VASOYA

4. ocular manifestation:-
 Retinal haemorrhage may occur if there is
associated vascular disease or bleeding
diathesis.
5. Reproductive system:-
 Menstrual disturbances-amenorrhoea and
menorrhagia.
 Loss of libido.
DR.VIVEK VASOYA

6. Renal system:-mild protinuria
7. Gastrointestinal system:-
 Anorexia,
 Flatulence,
 Nasea,
 Costipation,
 weight loss
8. Other:- spoon shaped nail(koilonychia)
DR.VIVEK VASOYA

Classification of
anaemia
Pathophysiologic
classification
Due to blood loss
Due to impaired
red cell
formation
Due to increased red
cell destruction
(haemolytic anaemia)
Morphologic
classification
Microcytic
,hypochromic
Normocytic,
normochromic
Macrocytic,normochromic
DR.VIVEK VASOYA

classification
 PATHOPHYSIOLOGIC CLASSIFICATION:-
1. Anaemia due to blood loss
1. Acute post-haemorrhagic anaemia
2. Chronic blood loss
2. Anaemias due to impaired red cell production.
1. Cytoplasmic maturation defects
1. Deficient haem synthesis
iron deficiency anaemia
2 Deficient globin synthesis
Thalassaemic syndromes
DR.VIVEK VASOYA

2. Nuclear maturation defect.
1. Vitamin B12 and/or folic acid deficiency
2. Megaloblastic anaemia
3. Defect in stem cell proliferation and
differentiation
1. Aplastic anaemia
2. Pure red cell aplasia
4. Anaemia of chronic disease
1. Anaemia in renal disease
2. Anaemia in liver disease etc.
5. Bone marrow infiltration
1. Leukaemia
2. Lymphoma
3. Myelosclerosis
4. Multiple myeloma DR.VIVEK VASOYA

6. Congenital anaemia
1. Sideroblastic anaemia
2. Congenital dyserythropoietic anaemia
3. Anaemia due to increased red cell destruction
(haemolytic anaemia)
1. Extrinsic (extra corpuscular) red cell defect
2. Intrinsic (intra corpuscular) red cell defect.
DR.VIVEK VASOYA

 Morphologic classification
1. Microcytic ,hypochromic :-
MCV,MCH,MCHC are all reduced ...
e.g.- iron deficiency anaemia
sideroblastic anaemia
thalassemia
anaemia of chronic disease.
2. Normocytic, normochromic
MCV,MCH,MCHC are all normal
e.g.-acute blood loss
haemolytic anaemia
bone marrow failure
anaemia of chronic disease.
DR.VIVEK VASOYA

3. Macrocytic , normochromic
MCV is raised
e.g.- megaloblastic anaemia
vit-12 or folic acid deficiency anaemia.
DR.VIVEK VASOYA

Investigation of anaemia
DR.VIVEK VASOYA

IRON DEFICIENCY ANAEMIA
DR.VIVEK VASOYA

INTRODUCTION
 The commonest nutritional deficiency disorder
present throughout the world is iron deficiency
anaemia.
 About 10% of people living in developed countries
and 25% to 50% of those in developing countries
are anemic
DR.VIVEK VASOYA

PATHOGENESIS
 Iron deficiency anaemia develops when the
supply of iron is inadequate for the
requirement of haemoglobin synthesis.
 Initially, negative iron balance is covered by
mobilisation from the tissue stores so as to
maintain Hb synthesis.
 It is only after the tissue stores of iron are
exhausted that the supply of iron to the
marrow become insufficient for Hb formation
and thus state of iron deficiency anaemia
develops.
DR.VIVEK VASOYA

ETIOLOGY
1. Increased blood loss
1. Uterine blood loss
 Excessive menstruation(menorrhagia)
 Repeated miscarriages
 At onset of menarche
 Post-menopausal uterine bleeding
2. Gastrointestinal blood loss
 Peptic ulcer
 Haemorrhoids
 Hookworm infestation
 Cancer of stomach and large bowel
 Oesophageal varices
 Hiatus hernia
DR.VIVEK VASOYA

3. Renal tract blood loss
 Haematuria
 Haemoglobinuria
4. blood loss from nose
 Repeated epistaxis
5. Blood loss from lungs
 Haemoptysis
2. Increased requirements:-
1.spurts of growth in infancy ,childhood,
adolescence
2.prematurity
3.pregnancy and lactation
DR.VIVEK VASOYA

3. Inadequate Dietary intake
 Poor economic status
 Anorexia
 Elderly individuals due to poor dentition
,financial constraints, apathy
4. Decreased absorption
 Partial or total gastrectomy
 Achlorhydria
 Intestinal malabsorption such as coeliac disease.
DR.VIVEK VASOYA

CLINICAL FEATURE
 Weakness
 Fatigue
 Dyspnoea on exertion
 Palpitation
 Pallor of the skin , mucous membranes , sclerae
 Pica –unusual dietary craving
 Menorrhagia
 Nails – koilonychia(spoon shaped nails)
 Mouth –angular stomatitis
 Oesophageal – dysphasia
DR.VIVEK VASOYA

LABORATORY FINDINGS
1. Blood pictures and red cell indices :-
 Haemoglobin –Decreased
 Red cells – Hypochromic
 Microcytic
 Anisocytosis (unequal size)
 Poikilocytosis (variation in shape)
DR.VIVEK VASOYA

Anisocytosis Poikilocytosis
DR.VIVEK VASOYA

2.BONE MARROW FINDINGS
 Marrow cellularity- increased due to
erythoid hyperplasia.
 Erythropoiesis – Micronormoblast
 Other cells- myeloid ,lymphoid –normal
 Marrow iron.-Deficient /Decreased
DR.VIVEK VASOYA

 Reticulocyte count:-normal or reduced but
may be slightly raised in case after
haemorrhage.
 Absolute value :- MCV-Decreased
 MCH-Decreased
 MCHC-Decreased
 WBC AND PLATELETS:-are normal but
platelets may be slightly raised in pt who have
had recent bleeding.
DR.VIVEK VASOYA

3.BIOCHEMIC FINDINGS
 serum iron – Low (40-140µg/dl)
 Total iron binding capacity-High (250-450µg/dl)
 Serum ferritin - very low (35-250 ng/dl)
 Red cell protoporphyrin - very low (20-40 µg/dl)
DR.VIVEK VASOYA

TREATMENT
1. Correction of the underlying cause.
2. Correction of iron deficiency:-
 ORALTHERAPY-
 Ferrous Sulfate
 Ferrous Fumarate
 Ferrous Gluconate
 PARENTERALTHERAPY-
 Iron dextran (grams of Hb * 250mg+150mg)
DR.VIVEK VASOYA

SIDEROBLASTIC ANAEMIA
DR.VIVEK VASOYA

Introduction
 Anaemia in which bone marrow produces
ring shaped sideroblasts rather than healthy
erythrocytes.
DR.VIVEK VASOYA

Types of sideroblastic anaemia
1. Hereditary sideroblastic anaemia
This is rare X-linked disorder associated with
defective enzyme activity of aminolevulinic
acid(ALA) synthetase which are required for heam
synthesis.
2. Acquired sideroblastic anaemia
A. Primary acquired sideroblastic anaemia:-
idiopathic
it is occurs spontaneously in middle –aged and
older individual of both sexes.
DR.VIVEK VASOYA

 The disorder has its pathogenesis in disturbed
growth and maturation of erythroid precursors at
the level of haematopoietic stem cell possibly due to
reduced activity of the enzyme ALA synthetase.
B . Secondary acquired sideroblastic anaemia
it is occurs secondary to variety of drug , chemical ,
toxins , haematological and various other disease.
1.Drug , chemical and toxin- Isoniazid (anti-TB drug) ,
alcohol , lead , Cycloserine , Chlormphenicol.
2.Haematological disorder- polycythaemia vera ,
acute leukaemia, myeloma , lymphoma ,
haemolytic anaemia.
3.Miscellaneous- Carcinoma , Myxoedema ,
Rheumatoid arthritis , SLE.
DR.VIVEK VASOYA

LAB.FINDING
 Haemoglobin –decreased
 Red cells – hypochromic
 microcytic or normocytic
 Absolute value :- MCV-decreased(raised in
acquired Sideroblastic anaemia)
 MCH-decreased
 MCHC-decreased
DR.VIVEK VASOYA

2.Bone marrow examination
 Marrow cellularity- increased due to
erythoid hyperplasia.
 Erythropoiesis –Macronormoblast
 Other cells- ring shaped Sideroblast present
 Marrow iron.-increased
DR.VIVEK VASOYA

3.Biochemic findings
 serum iron –raised (40-140µg/dl)
 Serum ferritin-raised (35-250 ng/dl)
 Iron deposition in the tissue increased.
DR.VIVEK VASOYA

Treatment
 Removal of offending agent
 No definite treatment for hereditary and
primary acquired type of sideroblastic
anaemia
 However, pyridoxine is given(200 mg /day for
2-3 month)
 Blood transfusion
DR.VIVEK VASOYA

MEGALOBLASTIC ANAEMIA
DR.VIVEK VASOYA

INTRODUCTION
 The megaloblastic anaemias are disorders caused
by impaired DNA synthesis and are characterised by
a distinctive abnormality in the haematopoietic
precursors in the bone marrow in which the
maturation of nucleus is delayed relative to that of
the cytoplasm.
 The nucleated red cell precursors tend to be larger
which Ehrlich termed “Megaloblast”.
 Megaloblast are morphologically and functionally
abnormal.
 Impaired DNA synthesis occur due to deficiency of
vitamin B12 and/or folic acid.
DR.VIVEK VASOYA

Etiology
1. Vitamin B12 Deficiency:-
1. Inadequate dietary intake-strict vegetarians , breast-fed
infants.
2. Malabsorption :-
(A) Gastric causes:- Pernicious anaemia
Gastroctomy
Congenital lack of intrinsic factor(IF)
(B)Intestinal cause:- Tropical sprue
ileal resection
Crohn’s disease(ileitis)
Intestinal blind loop syndome
Fish - tapeworm infestation.
DR.VIVEK VASOYA

2.FOLATE DEFICEANCY:-
1. Inadequate dietary intake-Alcoholism ,
Poverty ,Teenagers ,Infants , Old age.
2.Malabsorption-Tropical sprue , Coeliac
disease , Partial gastractomy , jejunal
resection , crohn’s disease.
3.Excess demand-
(A)physiological- pregnancy , lactation ,
infancy
(B)pathological- Malignancy , increased
haematopoiesis ,Tuberculosis , Chronic
exfoliative skin disorders , Rheumatoid arthritis.
4.Excess urinary folate loss – Active liver disease
, Congestive heart failure.
DR.VIVEK VASOYA

3.OTHER CAUSES:-
1.Impaired metabolism- inhibitors of dihydrofolate
(DHF) reductase such as methotrexate and
pyrimethamine , Alcohol , Cogeniatal enzyme
deficiencies.
2.Unkonwn etiology- Di Guglielmo’s syndrome ,
congenital dyserythropoitic anaemia , refractory
Sideroblastic anaemia.
DR.VIVEK VASOYA

Clinical features
 Anaemia
 Glossitis –smooth , beefy , red tongue.
 Neurological manifestation – numbness ,
parasthesia, weakness , ataxia , poor finger
coordination ,diminished reflexes.
 Mild jaundice
 Angular stomatitis
 Purpura
 Melanin pigmentation
 Symptoms of malabsorption,
 Weight loss
 Anorexia.
DR.VIVEK VASOYA

Laboratory findings
 Haemoglobin –decreased
 Red cells – Macrocytic
 Anisocytosis (unequal size)
 Poikilocytosis (variation in shape)
 Reticulocyte-low to normal in untreated
cases.
DR.VIVEK VASOYA

Absolute value :- MCV-elevated
 MCH-elevated
 MCHC-decreased/normal
 WBC-reduced ,hyper segmented neutrophils
 PLATELETS:-.Moderately reduced.
DR.VIVEK VASOYA

2.Bone marrow findings
 Marrow cellularity- hyper cellular with
decreased myeloid-erythroid ratio.
 Erythropoiesis –Megaloblastic erythropoiesis
 Other cells- Myeloid ,lymphoid –normal
 Marrow iron.-increase in the number and size
of iron granules..
DR.VIVEK VASOYA

3.Biochemic findings
 serum iron – normal/elevated (40-140µg/dl)
 Serum ferritin- normal/elevated (35-250 ng/dl)
 Serum unconjugated bilirubin and LDH -rise
DR.VIVEK VASOYA

Tests for vitamin B12 deficiency
 Serum vitamin B12 assay
 Schilling test(24 hrs urinary excretion test)
 Serum enzyme levels
DR.VIVEK VASOYA

Tests for vitamin B9 deficiency
 Urinary excretion of
FIGLU(formiminoglutamic acid)
 Serum folate assay
 Red cell folate assay.
DR.VIVEK VASOYA

Treatment
 Hydroxycobalamin-1000µg for 3 weeks IM
 Folic acid -5 mg orally for 4 months.
DR.VIVEK VASOYA

PERNICIOUS ANAEMIA
DR.VIVEK VASOYA

Introduction :-
 Pernicious anaemia was first described by Addison
in 1855 as a chronic disorder of middle-aged and
elderly individual of either sex in which intrinsic
factor(IF) secretion ceases owing to atrophy of the
gastric mucosa.
 Therefore this condition also called as Addisonian
megaloblastic anaemia.
 The average age for this anaemia is about 60-year
but rarely it can be seen children under 10-year of
age which is known as juvenile pernicious anaemia.
DR.VIVEK VASOYA

pathogenesis
 Decreases in Red Blood Cells that Occurs when
the Body can not Properly absorbVit -B12 from
the GI tract.
 Vit B12 is necessary for the proper Development
of Red blood Cells.
 In this typeAnaemia RBC’s are larger than
normal and Die Earlier than the 120 Days Life
Expectancy
DR.VIVEK VASOYA

Clinical feature
 Anaemia
 Glossitis –smooth , beefy , red tongue.
 Neurological manifestation – numbness ,
parasthesia, weakness , ataxia , poor finger
coordination ,diminished reflexes.
 Angular stomatitis
 Anorexia
 Hepatospleenomegaly
DR.VIVEK VASOYA

Diagnostic criteria
1. Major criteria:-
1. Low s.B12 level in presence of normal renal function.
2. Megaloblastic anaemia in bone marrow examination ,
which should not be due to folate deficiency.
3. Positive test for IF antibody.
2. Minor lab.criteria
1. Macrocytosis in bone marrow findings.
2. Anaemia of variable degree.
3. Hypergastrinaemia.
4. Positive gastric parietal cell antibody.(secrete IF)
5. Rise plasma homocysteine level(protein formation)
6. Gastric pH above 6
DR.VIVEK VASOYA

3.Minor clinical criteria.
1.neurologic features of
parasthaesia,numbness or ataxia
2.hypothyrodism
3.family history of PA or hypothyrodism
4.vitiligo
4.Reference standard criteria.
1.schilling test showing malabsorption of oral
cynocobalamin corrected by simultaneous
administration of IF.
DR.VIVEK VASOYA

TREATMENT:-
 Parenteral vit-B12 replacement therapy
 Symptomatic and supportive therapy such as
physiotherapy for neurologic deficits and
occasionally blood transfusion.
 Follow up for early detection of cancer of
stomach.
 Corticosteroid for gastric lesion.
DR.VIVEK VASOYA

SICKLE CELL ANAEMIA
DR.VIVEK VASOYA

introduction
 Sickle cell anaemia is genetic disorder that
affects erythrocytes causing them to become
sickle or crescent shaped.
 Sickle cell anaemia is a homozygous state of
HbS in the red cell in which an abnormal
gene is inherited from each parent.
DR.VIVEK VASOYA

pathogenesis
 Basic molecular lesion:-
 In HbS ,basic genetic defect is the single point
mutation in one amino acid out of 146 in
haemoglobin molecule.-
 There is substitution of valine for glutamic
acid at 6-residue position of the ß – globin ,
producing Hbs.
DR.VIVEK VASOYA

 Mechanism of sickling:-
 During deoxygenation ,the red cells containing
HbS change from biconcave disc shape to an
elogated crescent –shaped or sickle –shaped cell.
 The mechanism responsible for sickling upon
deoxygenation of HbS –containing red cells is the
polymerisation of dyoxygenated HbS which
aggregates to form elongated rod-like polymers.
 These elongated fibers align and distort the red
cell into classic sickle shape.
DR.VIVEK VASOYA

 Reversible –irreversible sickling:-the
oxygen-sickling process is usually reversible .
 damage to red cell membrane leads to
formation of irreversibly sickled red cells even
after they are exposed to normal oxygen
tension.
DR.VIVEK VASOYA

Clinical features
 The clinical feature begins to appear after 6
month of life when most of the HbF is
replaced by HbS.
 ANAEMIA:-there is usually severe chronic
haemolytic anaemia .
 The symptoms of anaemia is generally mild
since HbS gives up oxygen more readily than
HbA to the tissue.
DR.VIVEK VASOYA

Vaso-occlusive phenomena
 Pts of SS develop recurrent vaso-occlusive
episodes throughout their life due to obstruction to
capillary blood flow by sickled red cell.
 Vaso-obstruction affecting different organ and
tissues results in infarcts which may be 2 types.
1. Microinfarcts-affecting particularly the abdomen ,
chest, back and joints.
2. Macroinfarcts- spleen ,bone marrow , lungs ,
kidneys , retina,skin etc.
DR.VIVEK VASOYA

Constitutional symptoms
 Impaired growth and development and
increased susceptibility to infection due to
markedly impaired splenic function.
DR.VIVEK VASOYA

Lab.finding
 Hb-6-9 g/dl
 Blood film –sickel cell , target cell
 Positive sickling test
 Haemoglobin electrophoresis shows no
normal HbA but shows predominance of HbS
And 2-20% HbF
DR.VIVEK VASOYA

treatment
 There is no known cure for sickle cell anemia
 BloodTransfusions
 DrugTreatment
 Blood and Marrow Stem CellTransplantation
 GeneTherapy
DR.VIVEK VASOYA

 TYPES OF Hb
HbA – α2ß2
HbF – α2ɣ2
HbA2 – α2δ2
DR.VIVEK VASOYA

INTRODUCTION:-
 word meaning :- “thalassa” means “the sea”-
DR.VIVEK VASOYA

Mediterranean anaemia
DR.VIVEK VASOYA

DEFINITION
 Thalassemias are inherited disorders caused by
mutations in globin genes that decrease the
synthesis of α- or β-globin.
 It is also known as “‘Mediterranean anaemia”
DR.VIVEK VASOYA

 Thalassemia are group of the haemoglobin
disorders in which the production of normal
haemoglobin is partly or completely suppressed as
a result of the defective synthesis of one or more
globin chains
 Adult Hb 98% HbA α2β2 , 2% HbA2 α2δ2
 Normally, an individual inherits two β-globin genes
located one each on two chromosomes 11 , and
two α-globin genes one each on two chromosomes
16 from each parents i.e. Normal haemoglobin is
“α2β2”
DR.VIVEK VASOYA

CLASSIFICATION
DR.VIVEK VASOYA

Classification:-
 Depending upon whether the genetic defect lies in
transmission of α-or β-globin chain
genes,thalassaemia classified into two......
1. α-Thalassaemia.
2. β -Thalassaemia.
 Patients with α-thalassaemia have structurally
normal α- globin chain but their production is
decreased.
 Similarly ,in β- thalassaemia , β-globin chain is
structurally normal but their production is
decreased.
DR.VIVEK VASOYA

A. α -thalassaemia
A. Hb bart’s hydrops foetalis- four α- gene deletion
B. HbH disease Three α- gene deletion
C. α- thalassaemia trait- Two α- gene deletion
D. α- thalassaemia trait- One α- gene deletion
B. β- thallassaemia
A. β- thallassaemia major
B. β- thallassaemia intermedia
C. β- thallassaemia minor.
DR.VIVEK VASOYA

α -THALASSAEMIA
 α –thalassaemia are disorders in which there is
defective synthesis of α –globin chains resulting
in depressed production of Hb that contain α –
chains i.e. HbA ,HbA2 and HbF .
 The α –thalassaemias are most commonly due
to deletion of one or more of the α –chain genes
located on short arm of chromosome 16.
DR.VIVEK VASOYA

 The clinical manifestation of α –thalassaemia
depends upon the number of genes deleted.
 Accordingly , α –thalassaemias are classifed into 4
types.
A. Hb bart’s hydrops foetalis- four α- gene deletion
B. HbH disease Three α- gene deletion
C. α- thalassaemia trait- Two α- gene deletion
D. α- thalassaemia trait- One α- gene deletion
α1
α2
DR.VIVEK VASOYA
CHROMOSOME 16

Hb Bart’s Hydrops Foetalis
 When there is deletion of all the four α-chain
genes it results in total suppression of α-
globin chain synthesis causing most severe
form of α-thalassaemia called Hb Bart’s
Hydrops Foetalis.
 Hb Bart’s is gamma globin chain tetramer(Υ4)
which has high oxygen affinity leading to
severe tissue hypoxia. (100 times)
DR.VIVEK VASOYA

 Clinical feature
 Hb Bart’s hydrops foetalis is incompatible with life due
to severe tissue hypoxia.
 The condition is either fatal in uterus or the infants dies
shortly after birth.
 LAB.FINDINGS.
 Hb- below 6g/dl
 Blood film – anisopoikilocytosis , hypochromia ,
microcytes , normoblasts.
 Reticulocyte count - high
 S.bilirubin – elevated
 Hb electrophoresis shows 80-90% of Hb-Burt’s Hb. But
no HbA ,HbF ,HbA2.
DR.VIVEK VASOYA

HbH Disease
 Deletion of three α-chain genes produces
HbH which is a β –globin chain tetramer(β4)
and markedly impaired α-chain synthesis.
 HbH is precipitated as Heinz bodies within
the affected red cells.
DR.VIVEK VASOYA

 Clinical features:-
 HbH Disease is generally present as well-
compensated haemolytic anaemia.
 The feature are intermediate between that of β-
thalassaemia minor and major.
 Splenomegaly and may develop cholelithiasis.
 LAB.FINDINGS.
 Hb- 8-9 g/dl
 Blood film – hypochromia , microcytes ,
normoblasts.
 Reticulocytosis - mild
 Hb electrophoresis shows 2-4% of HbH. And the
remainder consist of HbA ,HbF ,HbA2.
DR.VIVEK VASOYA

α -THALASSAEMIA TRAIT
 By deletion of two of the four α-chain genes
in homozygous form called homozygous α-
thalassaemia, or in double heterozygous
form termed heterozygous α-thalassaemia.
 By deletion of a single α-chain gene causing
heterozygus α-thalassaemia trait called
heterozygous α-thalassaemia.
DR.VIVEK VASOYA

 Clinical feature
 α-thalassaemia trait due to two α-chain gene deletion
is asymptomatic.
 It is suspected in a patients of refractory microcytic
hypochromic anaemia in whom iron deficiency and β-
thalassaemia minor have been excluded.
 One gene deletion α-thalassaemia trait is a silent carrier
state.
 LAB.FINDINGS.
 Hb- 10-14 g/dl
 Blood film – hypochromia , microcytes but no evidence
of haemolysis or anaemia.
 MCV ,MCH ,MCHC-may be slightly reduced.
 Hb electrophoresis shows small amount of Hb –Bart’s in
neonatal period which gradually disappears by adult
life.HbA2.is normal or slightly decreased.
DR.VIVEK VASOYA

β - THALLASSAEMIA
 β- thallassaemia are caused by decreased rate of
β- chain synthesis resulting in reduced formation
of HbA in the red cells.
 β- thallassaemia arise from different type of
mutations of β-globin gene.
 More than 100 such mutation have been
described.
 β0- is used to indicate complete absence of β-
globin chain synthesis
 β+ is used to indicate partial synthesis of β - globin
synthesis.
DR.VIVEK VASOYA

Types of β-thalassaemia
1. β -Thalassaemia major(homozygous form):- it is the
most common form of congenital haemolytic
anaemia. It is further two types
1. β0 thalassaemia major- complete absence of β-chain
synthesis.
2. β+ thalasaemia major- incomplete suppression of β-chain
synthesis.
2. β -Thalassaemia intermedia:-it is β-thalassaemia of
intermediate degree of severity that does not require
regular blood transfusion . genetically heterozygous(β0
/ β or β+ / β)
3. Β-thalassaemia minor(trait):-it is mild asymptomatic
condition in which moderate suppression of β-chain
synthesis.
DR.VIVEK VASOYA

β- THALLASAEMIA MAJOR
 Synonyms:- Mediterranean anaemia
Cooly’s anaemia
 β-thalassaemia major is homozygous state with
either complete absence of β-chain synthesis or only
small amount of β-chain are formed.
 These results in excessive formation of alternate
haemoglobin ,HbF ( 2Υ2)and HbA2( 2δ2)
DR.VIVEK VASOYA

CLINICAL FEATURES
 Anaemia starts appearing within the first 4-6 months of
life when the switch over fromΥ-chain to β-chain
production occurs.
 Hepatosplenomegaly –due to excessive red cell
destruction , extramedullary erythropoiesis and iron
overload.
 Expansion of bones occur due to erythroid hyperplasia
leading to thalassaemic faces and mal-occlusion of
the jaw.
 Iron overload due to repeated blood transfusion
causes damage to the endocrine organs resulting in
slow rate of growth and development, delayed puberty
, DM ,and damage to the liver and heart.
DR.VIVEK VASOYA

THALASSAEMIC FACE
DR.VIVEK VASOYA

 LAB.FINDINGS.
 Hb- <5 gm/dl
microcytes , target cell , tear drop cell
,normoblast.
 Reticulocytosis is present
 S.bilirubin – elevated
 MCV,MCH,MCHC –reduced
 WBC count –raised
 Hb electrophoresis shows increase amount of
HbF and HbA2 ,complete absence or presesnce
of variable amount of HbA
 Bone marrow examination:-normoblastic
erythroid hyperplasia DR.VIVEK VASOYA

Treatment
1. Regular blood transfusion (4-6 weekly)
2. Folic acid supplement for maintain increased
demand of hyperplasmic marrow
3. Splenectomy is beneficial in children over 6
year of age.
4. Chelation therapy for iron overload
(Deferoxamine).
5. Bone marrow transplantation.
6. gene therapy
7. Cord blood transfusion.
DR.VIVEK VASOYA

β- THALLASSAEMIA MINOR
 The β- thallassaemia minor or β- thallassaemia
trait, a heterozygous state ,is a common entity
characterised by moderate reduction in β- chain
synthesis.
 Clinical features
 Clinically , the condition is usually asymptomatic
and the diagnosis is generally made when the
patient is being investigated for mild chronic
anaemia
 The spleen may be palpable.
DR.VIVEK VASOYA

 LAB.FINDINGS.
 Hb- mild anaemia 15% lower than normal person
for age and sex.
microcytes , target cell.
 Mild Reticulocytosis is present
 S.bilirubin – normal or slight elevated
 MCV,MCH,MCHC – slightly reduced
 Hb electrophoresis is confirmatory for the
diagnosis and shows about two-fold increase in
HbA2 and a slight elevation in HbF.
DR.VIVEK VASOYA

TREATMENT:-
 No require any treatment
 But they should be explained about the
genetic implications of the disorder
,particularly to those of child bearing age.
 If the two subjects of β- thallassaemia trait
marry, there is a 25% chance of developing
thallassaemia major in offsprings.
DR.VIVEK VASOYA

APLASTIC ANAEMIA
DR.VIVEK VASOYA

Introduction
 Aplastic anaemia define as pancytopenia
resulting from aplasia of the bone marrow.
 (pancyopenia means decrease the RBC,WBC
,platelet count.)
DR.VIVEK VASOYA

Classification and Etiology
 Primary Aplastic anaemia:-
1. Fanconi’s anaemia-it is an autosomal
recessive inheritance disorder in which all
type of blood cells production decrease and
often associated with congenital anomalies
such as skeletal and renal abnormalities.
2. Immune case:- in many case ,suppression of
haematopoietic stem cell by immunological
mechanism may cause aplastic anaemia.
DR.VIVEK VASOYA

 Secondary aplastic anaemia:-
1. Drugs:- cytotoxic drugs – Methotrexate ,
Chloramphenicol , Sulfa group of drugs etc
2. Toxic chemicals :- Industrial , domestic and
accidental use of substances such as benzene
derivatives , insecticides, arsenicals etc....
3. Infection :- viral hepatitis ,Epstain –barr virus
infection(EB virus) , AIDS ,and other viral illnesses.
4. Miscellaneous :-it is present with other illnesses
such as SLE ,therapeutic X-rays.
DR.VIVEK VASOYA

Clinical features
 Anaemia and its symptoms like mild
progressive weakness and fatigue
 Haemorrhage from various site due to
thrombocytopenia such as skin ,nose ,gums,
vagina ,bowel ,retina etc
 Infection of mouth and throat are commonly
presents.
DR.VIVEK VASOYA

Lab.findings
 Hb- moderately reduced.
 Reticulocyte count- reduced or zero.
 Wbc – decresed
 Platelets :-reduced
 Bone marrow examination:- depression of
myeloids cells, erythroid cells
,megakaryocytes.
DR.VIVEK VASOYA

treatments
 General managements:-
 Identification and elimination of cause.
 Blood transfusion, platelet concentrates and
treatment and prevention of infections.
 Specific treatments:-
 Marrow stimulating agents such as androgen
 Immunosuppressive therapy
 Bone marrow transplantation.
DR.VIVEK VASOYA

INVESTIGATION OF ANAEMIA
Dr.vivek vasoya
DR.VIVEK VASOYA

1.Hb estimation
 the first and foremost investigation in any
suspected case of anaemia is Hb estimation.
 If the Hb level is below the lower limit of the
normal range for particular age and sex ,the
patient said to be anaemic.
 Lower limit – 11.5g/dl
 In pregnant women -10.5g/dl (heamodilution)
DR.VIVEK VASOYA

2.Peripheral blood examination
 Peripheral blood examination is done for to
understand the morphological feature of RBC
 Peripheral blood film is stain by “romanosky
dyes”.
 The following abnormalities in erythroid
series of cells are particularly looked for in
blood smear...
DR.VIVEK VASOYA

1. Variation in size(anisocytosis)
1. Macrocytes(larger)
2. Aplastic anaemia
3. Dyserythropoitic anaemia
4. Anaemia due to chronic liver disease.
2. Microcytes(smaller)
1. Iron deficiency anaemia
2. Thalassemia
3. Spherocytosis (heamolytic anaemia)
DR.VIVEK VASOYA

2. Variation in shape(poikilocytosis):-
3. Thalassaemia
4. Heamolytic anaemia
3. Inadequate haemoglobin formation:-
1. hypochromasia
2. Chronic infection
2. Hyperchromasia
1. Megaloblastic aneamia
2. Spherocytosis.
DR.VIVEK VASOYA

4.Compensatory erythropoiesis:-
1. Polychromasia:- red cell having more than one
type of colour.
2. Erythroblastaemia :-presence of nucleated red
cell in the peripheral blood film.
3. Punctate basophilia or basophilic stippling:-
1. Aplastic anaemia
2. Thalassemia
3. Infection
4. Lead poisoning.
DR.VIVEK VASOYA

5.Miscellaneous changes:-
1. Spherocytosis:-means presence of spheroidal
rather than normal biconcave red cells.
2. Schistocytosis.:-fragmentation of
erythrocytes.
1. Thallassaemia
3. Irregular contracted RBC;-found in drug and
chemical induced haemolytic anaemia
4. leptocytosis:- unusually thin red cells
1. Iron deficieny anaemia
2. Thalassaemia.
DR.VIVEK VASOYA

5. Sickel cell:- found in sickel cell anaemia.
6. Crenated red cells:-erythrocytes which
develop numerous projections from the
surface.
7. Acanthocytosis:-coarsely crenated red cells.
8. Burr cells:-having one or more spines
9. Stomatocytosis:- which have slit –like or
mouth –like appearance.
10.Ovalocytosis:-oval or elliptical shape or RBC
DR.VIVEK VASOYA

C.RED CELL INDICES
 Iron deficiency anemia And in thallassemia
MCV ,MCH ,MCHC are reduced.
 In anaemia due to acute blood loss and
heamolytic anemia MCV ,MCH , MCHC are
normal
 MCV raised in megaloblastic anaemia.
DR.VIVEK VASOYA

D.Leucocyte and platelet count
 Measurement of leucocyte and platelet count
helps to distinguish pure anaemia and
pancytopenia in which red cells,WBC
,platelets all are reduced.
 Heamolytic aneamia or anaemia due to
haemorrahge neutrophil and platelet count is
eleveted.
 In Infection and leukaemias –leucocyte count
are high.
DR.VIVEK VASOYA

E.Reticulocyte count
 It is done in each case of anaemia to assess
the marrow erythropoitic activity.
DR.VIVEK VASOYA

F.Erythrocyte sedimentation rate
 The ESR is a non-specific test used as a
screening test for anaemia.
 It usually gives a clue to the underlying
disease but sometimes anaemia itself may
also cause rise in ESR.
DR.VIVEK VASOYA

G.Bone marrow examination
 It is done when the cause of anaemia is not-
obious.
DR.VIVEK VASOYA

LECTURE 15 anemia.pptx

Recommended

Recommended

More Related Content

Similar to LECTURE 15 anemia.pptx

Similar to LECTURE 15 anemia.pptx (20)

More from ssuser984fee

More from ssuser984fee (9)

Recently uploaded

Recently uploaded (20)

LECTURE 15 anemia.pptx