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Anaemia is define as reduction of the erythrocyte
mass in the blood. In anaemia either the no. of
erythrocyte are reduced or erythrocyte are deficient in
the oxygen binding pigment haemoglobin.
At the sea level, the average normal men has a 5.4
* 106 erythrocytes/mm3 & these erythrocytes
contain 16 g of haemoglobin/dl of blood.
The volume occupied by the erythrocyte is 47% of
the blood & is called as haematocreat. The
haemoglobin level, below which the anaemia is
likely to manifest are given below.
NORMAL HAEMOGLOBIN VALUE
AGE AND SEX HAEMOGLOBIN LEVELE g/dl
1) 6 MONTHS-6YEARS 11
2) 6 YEARS-14 YEARS 12
3) MEN 13
4) WOMEN 12
5) PREGNANT WOMAN 11
There are approx 100 different types of anaemia few of
them are classified as follow.
Iron deficiency anaemia.
Anaemia of chronic disease.
Float deficiency anaemia.
Vit.B-12 deficiency anaemia.
Auto immune haemolytic anaemia.
Sickle cell anaemia.
Anaemia due to glucose-6-phosphat
Paroxysmal nocturnal haemoglobinuria.
IRON DEFICIENCY ANAEMIA
Iron is critical for the growth of all cells. It is therefore not
surprising that iron-deficiency anemia independently
increases morbidity and mortality.
1] IRON PROFILE IN BODY:-
Most adults have 45 mg/kg elemental iron in their
bodies. Females generally have lower levels than
Within that pool of total body iron, approximately two
thirds is contained in heme and one third in the storage
forms of ferritin or hemosiderin.
To maintain adequate supplies of iron for heme
synthesis, 20 mg of iron is recycled daily, from
senescent red cells that are removed from the
circulation to new cells in the bone marrow.
Approximately 1 to 2 mg per day of additional dietary
iron is needed to balance losses in urine, sweat, and
Human erythropoietin can also be administrated.
Transfusion should be prescribed ONLY for conditions
for which there is NO OTHER TREATMENT.
Transfusion should not be prescribed when patient have
congestive cardiac failure, chronic kidney disease, or
So in such kind of patients, we can administrated
ANAEMIA OF CHRONIC DISEASE
A mild anaemia is often associated with chronic
diseases. E.g. chronic infection, renal failure &
rheumatoid arthritis etc.
The cause of anaemia is not well understood but
adaptive physiological response to the inflammation
may be responsible.
Megaloblastic anemia is a blood disorder in which there
is anaemia with larger than normal red blood cells.
SIGN AND SYMPTOM
The anemia symptoms of both folic acid deficiency and
vitamin B12 deficiency are the same. In both there are
often gastrointestinal tract symptoms e.g. anorexia and
diarrhea occur because the epithelial cells lining the
intestines also have a rapid turnover.
SIGN AND SYMPTOM
Frequently the patient does not seek medical help
until some of the following conditions occur:
weakness, palpitations, angina, and symptoms of
congenital heart failure. Folic acid deficiency results
in anemia and intestinal manifestations but not
Additional tests to establish the cause of low b12
Parietal cell and intrinsic factor antibodies: a positive
result for intrinsic factor antibodies is diagnostic of
pernicious anaemia as this is a more specific assay.
The Schilling test for B12 absorption is no longer
available. Upper gastrointestinal endoscopy, when
upper gastrointestinal symptoms or co-existing iron
deficiency are present, chiefly to exclude gastric
carcinoma, which occurs in 5% of patients with
Additional tests to establish the cause of folate
In the absence of dietary deficiency (common in the
elderly), a malabsorption syndrome (e.g. coeliac
disease) should be excluded, particularly in patients with
mixed iron and folate deficiency.
Coeliac screening estimation by detection of endomysial
antibodies (EMA-IgA), anti-tissue transglutaminase (tTG
IgA/IgG) and anti-gliadin (AGA IgA, AGA IgG)
If the diagnosis is still in doubt, jejunal biopsy is the gold
Bone marrow examination
It is rarely necessary in B12/folate deficiency, but should
be done if assay values are inconclusive, particularly if
the patient is pancytopenic, to exclude aplasia,
myelodysplasia or neoplasia.
However, it is mandatory in other macrocytic conditions,
especially to demonstrate the characteristic
dyshaemtopoiesis of a myelodysplastic disorder.
Loading doses of hydroxocobalamin 1mg are
administered I.M 3 times per week to a total of 6 doses
in the first 2 weeks. Thereafter, it is given 3-monthly for
life in cases of B12 malabsorption.
However, in dietary deficiency, maintenance oral
supplementation with cyanocobalamin may be given
once tissues stores have been replenished.
Blood transfusion should be avoided even in severe
anaemia, unless symptoms or cardiovascular risks
Neurological complications may develop even in the absence
of anaemia, therefore it is essential to initiate treatment as
soon as the diagnosis is made. Folic acid must not be
initiated before B12 as this can precipitate or aggravate
Folic acid is given at a dose of 5 mg daily orally for about 4
months to replenish tissue stores. Dietetic advice should be
given if dietary deficiency is the cause. Prophylactic folate
supplements, 400 μg daily, are recommended for pregnant
Haemolytic anaemia results from the early
destruction of an erythrocyte, from a variety of
causes, either inherited, or acquired. The
mechanism may be via intravascular or
1] SICKLE CELL DISEASE
Sickle cell disease (SCD) results from the recessive
inheritance of a mutant β globin gene in which
valine is substituted for glutamic acid at position 6
of the β -globin chain, resulting in the formation of
SCD comprises a group of conditions in which HbS is
present either in the homozygous form, HbSS, or in
association with other variant haemoglobins; HbC, HbE
HbDPunjab, HbOArab, β-thalassaemia plus (β +) or β –
thalassaemia zero (β0) leading to HbSC, HbSE and so
Normal adult haemoglobin (HbA) is soluble whereas
HbS is hydrophobic and has the singular property of
These bundles twist the shape of the red cell and damage its
membrane leading to irreversibly sickled cells, which are targets for
Sickle cells have lifespan of 16-20 days. Vasoocclusion by cells is
not only case of sickle cells blocked microvasculature, but SCD is a
chronic inflammatory condition with elevated conc. of inflammatory
mediators and free radicals.
There is red cell dehydration and abnormal interaction with vascular
endothelium & NO depletion, all contributing to vasoocclusion, the
hallmark of sickle cell disease.
DIAGNOSIS AND LABORATORY FEATURES
Full blood count (FBC) will make known anaemia with a high
reticulocyte count and blood film may show sickle cells. Serum
bilirubin may be elevated as may serum lactate
The sickle solubility test quickly confirms the presence of
sickle haemoglobin but is unable to differentiate unaffected
carrier status from the disease.
The most widely used diagnostic test is HPLC, which
separates haemoglobins according to their charge. Isoelectric
focusing and mass spectrometry are used as alternatives in
Exchange blood transfusion (EBT), where venesection
is carried out simultaneously with transfusion to avoid
raising the haematocrit, as this may cause
EBT can be carried out manually or by automated
erythro-cytopheresis but is associated with a poorer
Hydroxycarbamide therapy is then commenced in
patients with severe disease, aiming to improve it.
This results in increased HbF% and reduced white
Use of hydroxycarbamide is associated with reduced
mortality and decreased frequency of painful crisis and acute
Allogeneic stem cell transplant is the only known cure for
sickle cell disease and although over 200 transplants have
been successfully carried out with less than 5% mortality
Its use has been limited in adults by toxicity and the
availability of a suitably fully human leukocyte antigen
Recent successful transplants using 50% matched related
donors and less toxic regimens9,10 offer much greater hope.
Thalassaemia is an inherited disorder of Hb synthesis where
mutations of the globin gene lead to various degrees of
quantitative defect in globin production and an imbalance in β
globin chain synthesis, resulting in ineffective erythropoiesis
There are four a-globin genes, two inherited from each
parent, loss of up to two genes does not result in a clinically
apparent syndrome (permutations are; aa/a-,a-/a-,aa/–)
however loss of three genes (a-/–) results in haemoglobin H
disease, associated with anaemia and a degree of
These patients occasionally require transfusional
support. Loss of all four genes results in death due to
β-thalassaemia is a recessively inherited disorder where
there is a reduction (b+) or absence (b0) of normal b-
It is divided into three broad clinical phenotypes.
Individuals with β-thalassaemia major are completely
dependent on blood transfusion support from the first
year of life, usually due to homozygous inheritance of
Thalassaemia minor (trait) patients inherit a normal b gene in
association with either b+ or b0, and are asymptomatic but may
have a mild anaemia with invariably low MCV and mean cell
The third group is a heterogeneous group of patients with
diverse phenotypes intermediate to thalassaemia major and
minor, referred as thalassaemia intermedia.
The anaemia in β-thalassaemia results from ineffective
erythropoiesis, peripheral haemolysis and the overall reduction
in haemoglobin synthesis.
The reduced or absent β-globin production leads to precipitation of
excess α-globin chains in red cell precursors within the
haemopoietic tissue and results in their early destruction.
The effect of this ineffective erythropoiesis, a compensatory
erythroid hyperplasia, expansion of haemopoietic tissue within
expanded marrow spaces, extramedullary haemopoiesis &
hepatosplenomegaly in the absence of adequate transfusion.
These patients also have markedly increased iron absorption,
made worse with transfusional iron overload, and the condition
leads to early mortality if untreated.
CLINICAL INVESTIGATION & MANAGEMENT
CBC confirms a microcytic & hypochromic anaemia, and
blood film shows red cells that are nucleated and have
HPLC will reveal an absence of HbA in thalassaemia major,
raised haemoglobin A2 in thalassaemia intermedia patients
with variable amounts of HbA and HbF, & raised haemoglobin
A2 in thalassaemia trait.
children with untreated or partially treated thalassaemia
major die in the first or second decade of life. Clinical
management is based on adequate, safe blood transfusions
& prevention of iron overload.
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