Anaemia

Submitted to: Dr. Ayesha

Submitted by: Haider Ali
 Introduction

Epidemiology

Aetiology

Signs and Symptoms

Investigations

Treatment Plan
 INTRODUCTION

• Anemia can be defined as a reduction from

normal of the quantity of haemoglobin in the
blood.
• The World Health Organization defines anaemia
in adults as haemoglobin levels less than 13 g/dL
for males and less than 12 g/dL for females.
• The low haemoglobin level results in a
corresponding decrease in the oxygen-carrying
capacity of the blood.
 SEVERITY OF ANAEMIA

Severity Hb (gm%)
• Mild • 8-10
• Moderate • 6.5-8
• Severe • <6.5
 EPIDEMIOLOGY

• Anaemia is possibly one of the most

common conditions in the world and
results in significant morbidity and
mortality, particularly in the developing
world.
• Worldwide, over 50% of pregnant women
and over 40% of infants are anaemic.
 AETIOLOGY
• The low haemoglobin level that defines anaemia
results from two different mechanisms:

Increased haemoglobin loss due to either:

• Haemorrhage
• Haemolysis

Reduced haemoglobin synthesis due to either:

• lack of nutrient
• bone marrow failure
 TYPES

Microcytic Megaloblastic Haemolytic

anaemias anaemias anaemias
• Iron • Folate • Sickle cell
deficiency deficiency disease
anaemia • Vitamin B12 • Thalassaemia
• Anaemia of deficiency • Autoimmune
chronic haemolytic
disease anaemia
• Sideroblastic
anaemia
 SIGNS & SYMPTOMS

• Primary symptoms:
– Fatigability
– Tachycardia
– Palpitations
– Dyspnea on exertion

• Severe deficiency causes skin and mucosal changes,

including a smooth tongue, brittle nails, spooning of
nails (koilonychia), and cheilosis.
INVESTIGATIONS
 TREATMENT PLAN

• Oral Ferrous sulfate, 325 mg three times daily on

an empty stomach, which provides 180 mg of iron
daily of which up to 10 mg is absorbed, is the
preferred therapy.
• Folic acid and Vitamin B12 supplements can also
be added if condition does not improve.
• If there are hemoglobin or its metabolites are
present in urine then erythropoietin therapy is
initiated along with regular transfusions and more
over iron and other supplements are only
indicated when depletion of iron stores is
confirmed.
 IRON DEFECIENCY ANAEMIA
(IDA)

• Iron deficiency anaemia is the commonest form

of anaemiaworldwide and may be present in up
to 20% of the world's population
• IDA is considered to be the leading cause of
anaemia worldwide, accounting for as many as
50% of cases.
 AETIOLOGY

• It results from prolonged negative

iron balance.

• Other factors:
▪ Inadequate iron intake
▪ Decreased iron absorption
▪ Increased iron demand
▪ Increased iron loss
 SIGNS & SYMTOMS

• Pale skin and mucous membranes

• Patients at risk of heart failure may present with
breathlessness when anaemic.
• Koilonychia
• Dysphagia
• Pica
• Atrophic gastritis
 LABORATORY EVALUATIONS

• Complete blood count (CBC),

erythrocyte sedimentation rate (ESR),
and peripheral blood film (PBF)
• Serum iron profile
• Bone marrow study (if needed)
• Investigations to determine other
causes of IDA (e.g. colonoscopy, urine
examination).
 TREATMENT PLAN

• Oral iron therapy:

➢200 mg elemental iron per day for 3-6
months.
➢2-3 divided doses to maximize
tolerability.
➢Administration should be 1 hour before
meals or on empty stomach.
 TREATMENT PLAN

• Absorption of all oral preparations are similar

 TREATMENT PLAN

• Parenteral iron therapy:

▪ Indications:
➢ Intolerance to oral route
➢ Malabsorption
➢ Long-term nonadherence
➢ Chronic kidney disease
• Available formulations:
➢ Dextran
➢ Sodium ferric gluconate
➢ Iron sucrose
➢ Ferumoxytol

• All preparations carry a risk for anaphylactic

reactions.
 COMMON SIDE EFFECTS

• Gastrointestinal (GI) intolerance:

➢Nausea, vomiting, heartburn, and
diarrhea or constipation.
➢Cause discoloration of stool
 ANAEMIA OF CHRONIC
DISEASE

▪ Epidemiology:
• It refers to mild to moderately severe
anaemia ([Hb] 7-12 g/dl) associated with
chronic infections , malignancies, arthritis,
HIV and other infections.

• It is increasingly being referred to as ‘anaemia

of inflammation`.
• This is the second most common form of
anaemia (after iron deficiency).
 AETIOLOGY

• Circulating iron is reduced due to impaired

response to erythropoietin and inflammatory
cytokines.
• Cytotoxic agents, such as platinum-based
therapies, decrease erythrocyte production
through their anti-proliferative are more likely
to cause anaemia.
• Chronic rejection after solid-organ
transplantation.
PATHOPHYSIOLOGY
 INVESTIGATION
• The erythrocytes are normocytic and normochromic but
with increasing severity and duration, can become
hypochromic and eventually microcytic.
• Differentiation between iron deficiency anaemia and
anaemia of chronic disease is as follows:
 TREATMENT PLAN

• Treatment of underlying chronic condition is

important.
• Patients with anaemia-associated
inflammatory bowel diseases respond to
intravenous iron.
• Erythropoietin analogues are indicated in
chronic renal failure or cancer.
• Intravenous iron is given to patients with
heart failure which is reserved for patients
with proven iron deficiency.
 HAEMOLYTIC ANAEMIAS

• In the haemolytic anaemias, there is a

reduced life span of the erythrocytes.

• Anaemia occurs when the rate of

destruction of the erythrocytes exceeds
their rate of production
 CLINICAL MANIFESTATIONS

➢ Malaise
➢ Fever
➢ Abdominal pain
➢ Dark urine
➢ Juandice
➢ Splenomegaly
➢ Their anaemia is usually normochromic
normocytic.
 GENERAL TREATMENT

➢ Folate and folic acid supplements are often

required in many patients with over active
bone marrow.
➢ Patients who require frequent transfusions
are at risk of iron overload and require
chelation therapy with:
▪ Deferioxamine
▪ Desferiprone
▪ Deferasirox
 SICKLE CELL ANAEMIA

➢ Sickle cell disease is a hereditary condition.

➢ Several different variants of sickle cell disease

exist. It is found in a number of ethnic groups,
mainly in populations that originate from
tropical regions.
 AETIOLOGY

• Patients with sickle cell anaemia have a

different form of haemoglobin.

• Most common variant is hemoglobin S (Hb S).

• Hb S has valine substituted for glutamic acid

as the 6th amino acid in β-polypeptide
compared with normal haemoglobin.

• Sickle cell trait is where a person is a carrier

of gene which are usually asymptomatic.
 PATHOPHYSIOLOGY

• Red cells containing Hb S is damaged, it leads

to intracellular dehydration.
• When patients’s blood is deoxygenated,
polymerization of Hb S occurs forming a
semisolid gel.
• These 2 processes leads to formation of sickle
cells which are less flexible.
• Inflexibility causes impaired blood flow
resulting in local tissue hypoxia.
 CLINICAL MANIFESTATIONS

• Anorexia
• Fatigue
• Splenomegaly
• Chronic anaemia
• Infarction of long bones
• Infarction of large organ (liver, lungs, brain)
• Severe pain on site of infarction
 TREATMENT

• Transfusions and exchange transfusions

decrease the proportion of Hb S.
• Folic acid
• For pneumococcal infection associated with
sickle cell disease, Penicillin V 250 mg twice a
day for adults.
• Hydroxycarbamide is effective.
• Morphine is suggested for pain relief.
 THALASSAEMIAS

• EPIDEMIOLOGY:
– The thalassaemias are a group of inherited disorders of
haemoglobin synthesis characterized by a reduced or
absent of one or more of the globin chains of adult
haemoglobin.
– The β thalassaemias occur mainly in populations from
around the Mediterranean, North and West Africa,
Middle East and Indian subcontinent.
– More than 100 β thalassaemia mutations have been
identified, and they tend to produce severe anaemia.
– Recent data indicate 7% of world population is carrier
of haemoglobin disorder.
 AETIOLOGY

There are two basic groups of thalassemia.

• Alpha (α) thalassemia:
– The alpha genes are deleted; loss of one gene
(α-/ α) or both genes (α-/α-) from each
chromosome 16 may occur.

• Beta (β) thalassemia:

– Defective production usually results from
disabling point mutations causing no or
reduced beta chain production.
 PATHOPHYSIOLOGY

• Pathophysiology of β thalassemia:
 PATHOPHYSIOLOGY
• Pathophysiology of α thalassemia:
Reduced α chain

Excess β or γ chains

erythropoiesis is less affected

Hb is unstable

Shortened life span

Hb Bart's or haemoglobin is useless

 CLINICAL MANIFESTATIONS

• Expansion of bone marrow

• Bone deformity
• Growth retardation
• Splenomegaly
• Recurrent infections
 LABORATORY FINDINGS

• Haemoglobin electrophoresis

• Complete blood count (CBC),

peripheral blood film (PBF).

• Reticulocyte count.
 TREATMENT

• Blood transfusions are required for

many patients with severe cases
(may cause iron overload).
• Desferrioxamine, deferiprone and
deferasirox are routinely needed for
such patients.
• Splenectomy and allogeneic stem cell
transplant is used in severe patients.