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Review Article

An Overview on Thalassemia
Sathi babu Talluri1 *, Vishnu datta2, Siva girish babu Guttula3
Department of Pharmaceutics, Aditya college of Pharmaceutical Sciences and Research, Surampalem,
East Godavari District, Andhra Pradesh, India.
2
Department of Pharmaceutics, JSS College of Pharmacy, Mysore, Karnataka, India.
3
Department of Pharmaceutics, SRM College of Pharmacy, Potheri, Kanchipuram District, TN, India.
Email id: sathibabu.talluri@gmail.com

Article Received on: 25/06/13, Revised on: 02/06/2013, Approved for publication: 08/07/2013
Abstract
Thalassemia is a form of inherited autosomal recessive blood disorders that originated in
the Mediterranean region. In thalassemia, the disease is caused by the weakening and destruction of red
blood cells. Thalassemia is caused by variant or missing genes that affect how the body makes
hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. People with thalassemia
make less hemoglobin and fewer circulating red blood cells than normal, which results in mild or
severe anemia. Thalassemia will present as microcytic anemia which may be differentiated from iron
deficiency anemia using the mentzer index calculation. Thalassemia can cause significant complications,
including iron overload, bone deformities and cardiovascular illness. However this same inherited disease
of red blood cells may confer a degree of protection against malaria, which is or was prevalent in the
regions where the trait is common. This selective survival advantage on carriers (known as heterozygous
advantage) may be responsible for perpetuating the mutation in populations. In that respect, the various
thalassemias
resemble
another genetic
disorder affecting
hemoglobin, sickle-cell
disease.
The thalassemia is classified according to which chain of the hemoglobin molecule is affected. In
thalassemias, production of the globin chain is affected, while in thalassemia production of the globin
chain is affected.
Key words: Thalassemia, Autosomal, Variants, Microcytic anemia, Heterozygous.

Introduction
Thalassemia is forms of inherited autosomal
recessive blood disorders that originated in
the Mediterranean region. In thalassemia, the
disease is caused by the weakening and
destruction of red blood cells. Thalassemia is
caused by variant or missing genes that affect
how the body makes hemoglobin.

Address for correspondence:

Sathi babu Talluri
E mail: sathibabu.talluri@gmail.com
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Hemoglobin is the protein in red blood cells that

carries oxygen. People with thalassemia make
less hemoglobin and fewer circulating red blood
cells than normal, which results in mild or
severe anemia. Thalassemia
will present
as microcytic
anemia which
may
be
differentiated from iron deficiency anemia using
the mentzer index calculation.
Thalassemia
can
cause
significant
complications, including iron overload, bone
deformities and cardiovascular illness. However
this same inherited disease of red blood cells
may
confer
a
degree
of protection
against malaria, which is or was prevalent in the
regions where the trait is common. This selective

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survival advantage on carriers (known
as heterozygous advantage) may be responsible
for perpetuating the mutation in populations. In
that respect, the various thalassemias resemble
another genetic disorder affecting
hemoglobin, sickle-cell disease.[1] [2]
Epidemiology
The beta form of thalassemia is particularly
prevalent among Mediterranean peoples and this
geographical association is responsible for its
naming. In Europe, the highest concentrations of
the disease are found in Greece, coastal regions
in Turkey (particularly the Aegean Region such
as Izmir, Balikesir, Aydin, Mugla,and Mediterra
nean Region such as Antalya, Adana, Mersin), in
parts of Italy, particularly Southern Italy and the
lower Po valley. The major Mediterranean
islands
(except
the Balearics)
such
as Sicily, Sardinia, Malta.
Corsica, Cyprus,
and Crete are heavily affected in particular.
Other Mediterranean people, as well as those in
the vicinity of the Mediterranean, also have high
rates of thalassemia, including people from West
Asia and North
Africa.
Far
from
the
Mediterranean, South Asians are also affected,
with the world's highest concentration of carriers
(16% of the population) being in the Maldives.
Nowadays, it is found in populations living in
Africa, the Americas and also, in Tharu in
the Terairegion
of Nepal and India.[3] It
is
believed to account for much lower malaria
sicknesses and deaths,[4] accounting for the
historic ability of Tharus to survive in areas with
heavy malaria infestation, where others could
not. Thalassemias are particularly associated
with people of Mediterranean origin, Arabs
(especially Palestinians and people of Palestinian
descent), and Asians.[5]
The Maldives has the highest
incidence of Thalassemia in the world with a
carrier rate of 18% of the population. The
estimated prevalence is 16% in people
from Cyprus, 1%[6] in Thailand, and 3-8% in
populations
from Bangladesh, China, India, Malaysia and Pa
kistan. Thalassemias also occur in descendants of
people from Latin America and Mediterranean
countries (e.g. Greece, Italy, Portugal, Spain, and
others).

Pathophysiology
Normally, hemoglobin is composed of
four protein chains, two and two globin
chains arranged into a heterotetramer. In
thalassemia, patients have defects in either or
globin chain (unlike sickle-cell disease, which
produces a specific mutant form of globin),
causing production of abnormal red blood cells.
Classification
The thalassemias are classified
according to which chain of the hemoglobin
molecule is affected. In thalassemias,
production of globin chain is affected, while in
thalassemia production of the globin chain is
affected.
The globin chains are encoded by a
single gene on chromosome 11; globin chains
are encoded by two closely linked genes on
chromosome 16. Thus, in a normal person with
two copies of each chromosome, there
are two loci encoding the chain, and four loci
encoding the chain. Deletion of one of the
loci has a high prevalence in people of African or
Asian descent, making them more likely to
develop thalassemias. Thalassemias are not
only common in Africans, but also in Greeks and
Italians.
Alpha () thalassemias
The thalassemias involve the genes
HBA1[7] and HBA2,[8] inherited in a Mendelian
recessivefashion. There are two gene locii and so
four alleles. It is also connected to the deletion of
the 16p chromosome. Thalassemias result in
decreased alpha-globin production, therefore
fewer alpha-globin chains are produced, resulting
in an excess of chains in adults and excess
chains in newborns. The excess chains form
unstable tetramers (called Hemoglobin H or HbH
of 4 beta chains), which have abnormal oxygen
dissociation curves.
Alpha-thalassemia is due to impaired
production of 1, 2, 3 or 4 alpha globin chains,
leading to a relative excess of beta globin chains.
The degree of impairment is based on which
clinical phenotype is present (how many chains
are affected).
It is most commonly inherited in a
Mendelian recessive fashion. It is also connected
to the deletion of the 16p chromosome. It can

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also
be
acquired,
under
rare
[9]
circumstances. Due to the low occurrence of
alpha-thalassemia, the disease can be mistaken
for iron deficiency anemia.[10]
Beta () thalassemia
Beta thalassemias are due to
mutations in the HBB gene on chromosome
11,[11] also inherited in an autosomal-recessive
fashion. The severity of the disease depends on
the nature of the mutation. Mutations are
characterized as either o or thalassemia major
if they prevent any formation of chains, the
most severe form of thalassemia. Also, they are
characterized as + or thalassemia intermedia if
they allow some chain formation to occur. In
either case, there is a relative excess of chains,
but these do not form tetramers: Rather, they
bind to thered blood cell membranes, producing
membrane damage, and at high concentrations
they form toxic aggregates.
Beta-thalassemia is a hereditary
disease affecting the hemoglobin which makes
red blood cells red. As with about half of all
hereditary diseases,[12] the inherited DNA
mutation causes errors in assembling the working
gene or messenger-type RNA (mRNA) that is
transcribed from a chromosome's long strand of
DNA. In thalassemia, the working gene (mRNA)
assembly error typically consists of not finding
the (mutated) boundary between the intronic and
extronic portions of the DNA strand (as reflected
in the raw mRNA transcript), and consequently
including an additional, contiguous length of
non-coding instructions into the mRNA, or
adding just a discontinuous fragment of
it.[13] Because all the correct instructions can be
present, sometimes normal hemoglobin is
produced and the added genetic material, if it
produces pathology, interferes with the
regulation of desired levels of protein
production, enough to ultimately produce
anemia. Normal adult hemoglobin contains 2
alpha and 2 beta subunits. Thalassemias typically
affect only the mRNAs for production of the beta
chains, hence the term "beta-thalassemia". Since
the mutation that prevents the spliceosome from
finding the correct boundary between intronic
and extronic portions of the raw RNA transcript
can be a change in only a single DNA letter
(a "Single Nucleotide Polymorphism" or SNP),

there are on-going efforts to find gene therapies

able to correct it.[14]
Symptoms and Prolonged Disorders
Excess amounts of iron overload
within the body causes serious complications
within the liver, heart, and endocrine glands.
Severe symptoms include liver cirrhosis, liver
fibrosis, and in extreme cases liver cancer. Heart
failure, growth impairment, diabetes, and
osteoporosis are major life threatening
contributors brought upon by TM. The main
cardiac abnormalities seen to have resulted from
Thalassemia and iron overload, include,
specifically left ventricular systolic and diastolic
dysfunction,
pulmonary
hypertension,
valveulopathies,
arrhythmias,
and
pericarditis. [15] [16]
Factors Affecting the Regulation of Iron
Absorption: The regulation of iron absorption
within the gut ultimately depends upon 3 factors.
The first factor consists of the degree of impaired
red-blood cell production that has taken place
within the body. The second factor respectively
correlates with the degree of iron overload within
the blood. In continuation with this iron
overload, the third factor deals with the
expression and balance of Fpn 1 and Hamp 1
proteins controlling ferroportin levels in the gut
respectively. Since iron loading depends on the
volume of blood transfused and the amount of
iron accumulated from the food displaced in the
gut, these factors are significantly important in
the regulation of total iron absorption within the
human body. [17]
Delta () thalassemia
As well as alpha and beta chains present
in hemoglobin, about 3% of adult hemoglobin is
made of alpha and delta chains. Just as with beta
thalassemia, mutations that affect the ability of
this gene to produce delta chains can occur.
Relationship with beta thalassemia
The importance of recognizing the
existence of delta thalassemia is seen best in
cases where it may mask the diagnosis of beta
thalassemia trait. In beta thalassemia, there is an
increase in hemoglobin A2, typically in the range
of 4-6% (normal is 2-3%). However, the coexistence of a delta thalassemia mutation will

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Name
[18,19]

Description

Alleles

Thalassemia
minor

Only one of globin alleles bears a mutation. Individuals will suffer from microcytic
anemia. Detection usually involves lower than normal MCV value (<80 fL). Plus an +/ or
increase in fraction of Hemoglobin A2 (>3.5%) and a decrease in fraction
o/
of Hemoglobin A (<97.5%).

Thalassemia
intermedia

A condition intermediate between the major and minor forms. Affected individuals
+/+or
can often manage a normal life but may need occasional transfusions, e.g., at times of o +
/
illness or pregnancy, depending on the severity of their anemia.

If both alleles have thalassemia mutations. This is a severe microcytic,

hypochromic anemia. Untreated, it causes anemia, splenomegaly, and severe bone
Thalassemia deformities. It progresses to death before age 20. Treatment consists of
o/o
periodic blood transfusion; splenectomy if splenomegaly is present, and treatment of
major
transfusion-caused iron overload. Cure is possible by bone marrow transplantation.
Cooley's anemia is named after Thomas Benton Cooley
decrease the value of the hemoglobin A2 into the
product of parents each of whom has be
normal range, thereby obscuring the diagnosis of
thalassemia trait has a one in four chance of
beta thalassemia trait.[20] This can be important in
having beta thalassemia major.
genetic counseling, because a child who is the

In combination with other

hemoglobinopathies
Thalassemia
can
co-exist
with
other
hemoglobinopathies. The most common of these
are:
Hemoglobin
E/thalassemia:
common
in Cambodia, Thailand, and parts of India;
clinically similar to thalassemia major or
thalassemia intermedia.
Hemoglobin S/thalassemia, common in
African and Mediterranean populations;
clinically similar to sickle cell anemia, with
the additional feature of splenomegaly
Hemoglobin C/thalassemia: common in
Mediterranean and African populations,
hemoglobin
C/o thalassemia
causes
a
moderately severe hemolytic anemia with
splenomegaly; hemoglobin C/+ thalassemia
produce a milder disease.

of dominantly inherited and thalassemias

have been reported, the first of which was in an
Irish family with two deletions of 4 and 11 bp in
exon 3 interrupted by an insertion of 5 bp in the
Causes

Both and thalassemias are often

inherited in anautosomal recessive fashion,
although this is not always the case. Cases

-globin
gene.
For
the autosomal recessive forms of the disease,
both parents must be carriers in order for a child
to be affected. If both parents carry a

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hemoglobinopathy trait, there is a 25% risk with
each pregnancy for an affected child. There are
an estimated 60-80 million people in the world
carrying the beta thalassemia trait alone. This is
a very rough estimate; the actual number
of thalassemia major patients is unknown due to
the prevalence of thalassemia in less developed
countries. Countries such as India and Pakistan
are seeing a large increase of thalassemia
patients due to lack of genetic counseling and
screening. There is growing concern that
thalassemia may become a very serious problem
in the next 50 years, one that will burden the
world's blood bank supplies and the health
system in general. There are an estimated 1,001
people living with thalassemia major in the
United States and an unknown number of
carriers. Because of the prevalence of the
disease in countries with little knowledge of
thalassemia, access to proper treatment and
diagnosis can be difficult.
Complications
Iron overload: People with thalassemia can get
an overload of iron in their bodies, either from
the disease itself or from frequent blood
transfusions. Too much iron can result in
damage to the heart, liver and endocrine system,
which includes glands that produce hormones
that regulate processes throughout the body. The
damage is characterized by excessive deposits of
iron. Without adequate iron chelation therapy,
almost all patients with beta-thalassemia will
accumulate potentially fatal iron levels.[21]
Infection: People with thalassemia have an
increased risk of infection. This is especially
true if the spleen has been removed.

Bone deformities: Thalassemia can make

the bone marrow expand, which causes
bones to widen. This can result in abnormal
bone structure, especially in the face and

skull. Bone marrow expansion also makes

bones thin and brittle, increasing the risk of
broken bones.
Enlarged spleen: the spleen aids in fighting
infection and filters unwanted material, such
as old or damaged blood cells. Thalassemia
is often accompanied by the destruction of a
large number of red blood cells and the task
of removing these cells causes the spleen to
enlarge. Splenomegaly can make anemia
worse, and it can reduce the life of
transfused red blood cells. Severe
enlargement of the spleen may necessitate
its removal.
Slowed growth rates: anemia can cause a
child's growth to slow. Puberty also may be
delayed in children with thalassemia.
Heart problems: such as congestive heart
failure and abnormal heart rhythms
(arrhythmias), may be associated with
severe thalassemia.[22]
Benefits:
Epidemiological evidence
from Kenya suggests another reason: protection
against severe malarial anemia may be the
advantage. [23]
People
diagnosed
with heterozygous (carrier) thalassemia have
some protection against coronary heart
disease.[24]
Medical care
Mild
thalassemia:
patients
with
thalassemia traits do not require medical or
follow-up care after the initial diagnosis is
made.[25] Patients with -thalassemia trait should
be warned that their condition can be
misdiagnosed for the common Iron deficiency
anemia. They should eschew empirical use
of Iron therapy; yet iron deficiency can develop
during
pregnancy
or
from
chronic
[26]
bleeding. Counseling is indicated in all
persons with genetic disorders, especially when
the family is at risk of a severe form of disease
that may be prevented.[27]

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Severe thalassemia: Patients with severe
thalassemia require medical treatment. A blood
transfusion regimen was the first measure
effective in prolonging life. [25]

This iron overload may be treated with

chelation therapy. Deferoxamine, Deferiprone
and Deferasirox are the three most widely used
iron-chelating agents.

Drug treatment

Deferoxamine

Patients with thalassemia gradually

accumulate high levels of iron (Fe) in their
bodies. This build-up of iron may be due to the
disease itself, from irregular hemoglobin not
properly incorporating adequate iron into its
structure, or it may be due to the many blood
transfusions received by the patient. This
overload of iron brings with it many biochemical
complications.

Administration and action

Two key players involved in iron

transport
and
storage
in
the
body
are ferritin and transferrin. Ferritin is a protein
present within cells that binds to Fe (II) and
stores it as Fe (III), releasing it into the blood
whenever required. Transferrin is an ironbinding protein present in blood plasma;
transferrin acts as a transporter, carrying iron
through blood and providing cells with the metal
through endocytosis. Transferrin is highly
specific to iron (III), and binds to it with
an equilibrium constant of 1023 M1 at a pH of
7.4.[28]
Thalassemia results in non-transferrinbound iron being available in blood as all the
transferrin becomes fully saturated. This free
iron is toxic to the body since it catalyzes
reactions
that
generate
free
hydroxyl radicals.[29] These
radicals
may
induce lipid peroxidation of organelles like
lysosomes, mitochondria, and sarcoplasmic
membranes. The resulting lipid peroxides may
interact with other molecules to form cross links,
and thus either cause these compounds to
perform their functions poorly, or render them
non-functional altogether.[29]

Deferoxamine
is
administered
via intravenous, intramuscular, or subcutaneous
injections. Oral administration is not possible as
deferoxamine is rapidly metabolized by enzymes
and is poorly absorbed from the gastrointestinal
tract. The required parenteral administration
represents one of deferoxamines downfalls as it
is harder for patients to follow up with their
therapy due to the financial and emotional
burdens experienced. [30] Deferoxamine was
proven to cure many clinical complications and
diseases that result from iron overload. It
beneficially affects cardiac disease, such as
myocardial disease which occurs as a result of
iron accumulation in the heart.[31] Deferoxamine
was also shown to improve liver function by
arresting
the
development
ofhepatic
fibrosis which occurs as a result of iron
accumulation in the liver.[32] Deferoxamine also
has positive effects on endocrine function and
growth. Endocrine abnormalities in thalassemic
patients involve the overloaded iron interfering
with the production of insulin-like growth factor
(IGF-1), as well as stimulating hypogonadism,
both of which cause poor pubertal growth. A
study showed that 90% of patients who were
regularly treated with deferoxamine since
childhood had normal pubertal growth, which
fell to 38% for patients treated only with low
doses
of
deferoxamine
since
their
[29]
teens. Another endocrine abnormality that
thalassemic patients face is diabetes mellitus,
which results from iron overload in the pancreas
impairing insulinsecretion. Studies have shown
that patients who were regularly treated with
deferoxamine have a reduced risk of developing
diabetes mellitus.[33]

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Side effects
Deferoxamine could lead to toxic side
effects if doses greater than 50 mg/kg body
weight are administered. These side effects may
include
auditory
and
ocular
abnormalities, pulmonary
toxicity, sensorimotor neurotoxicity, as well as
changes in renal function.[29] Another toxic
effect of deferoxamine mostly observed in
children is the failure of linear growth. The toxic
effect of deferoxamine on linear growth could
also be due to excess deferoxamine
accumulating in tissues and interfering with
iron-dependent enzymes which are involved in
the
post-translational
modification
of
[34]
collagen.
Patients
who
receive vitamin
C supplements have shown improved iron
excretion by deferoxamine. This occurs due to
the expansion of the iron pool brought about by
vitamin C, which deferoxamine subsequently
has access to. However, vitamin C
supplementation could also worsen iron toxicity
by promoting the formation of free radicals.
Therefore, only 100 mg of vitamin C should be
taken 30 minutes to one hour after deferoxamine
administration.[35]
It has also been proven that
combined treatment with deferoxamine and
deferiprone leads to an increased efficiency in
chelation and doubles iron excretion.[36]
Deferiprone
Administration and action
Deferiprone is an iron chelator that is
orally active, its administration thus being much
easier
than
that
for
[37]
deferoxamine. Plasma levels for the iron-drug
complex climax after one hour of intake and the
drug has a half-life of 160 minutes. Most of the
iron-drug complex is therefore excreted within

three to four hours following administration,

the excretion occurring mostly in urine
(90%).[37]
When comparing deferiprone to
deferoxamine, it should be noted that they both
bind iron with similar efficiency. However,
drugs with different properties are able to access
different iron pools. DFP is smaller than
deferoxamine and can thus enter cells more
easily. Also, at the pH of blood, the affinity of
DFP for iron is concentration dependent: at low
DFP concentrations, the iron-drug complex
breaks down and the iron is donated to another
competing ligand. This property accounts for the
observed tendency of DFP to redistribute iron in
the body. For the same reason, DFP can shuttle
intracellular iron out to the plasma, and transfer
the iron to deferoxamine which goes on to expel
it from the body.[38]
DFP was also found to be significantly
more effective than deferoxamine in treating
myocardial siderosis in patients with thalassemia
major:[37] DFP is thought to improve the
function of mitochondria in the heart by
accessing and redistributing labile iron in
cardiac cells.
Thalassemia patients may also be faced
with potential oxidative damage to brain cells as
the brain has high oxygen demands, but contains
relatively low levels of antioxidant agents for
protection against oxidation. The presence of
excess iron in the brain may lead to higher
concentrations
of free
radicals.
Hexadentate chelators, like deferoxamine, are
large molecules, and are thus unlikely to be able
to cross the blood-brain barrier to chelate the
excess iron. DFP, however, can do so and forms
a soluble, neutral iron-drug complex that can
cross
cell
membranes
by
nonfacilitated diffusion. Attaching the drug to
sugars may additionally enhance the penetration
of the blood-brain barrier, as the brain

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uses facilitated transport for its relatively high
levels of sugar intake.[40]
Side effects
DFP
can
be
subjected
to glucuronidation in the liver, which may expel
as much as 85% of the drug from the body
before it has had a chance to chelate iron. DFP
also has a well-known safety profile,
withagranulocytosis being the most serious side
effect.[37] While agranulocytosis has been
reported in less than 2% of patients treated, it is
potentially life threatening and thus requires
close monitoring of the white blood cell
count.[39] Less serious side effects include
gastrointestinal symptoms, which were found in
33% of patients in the first year of
administration, but fell to 3% in following
years; arthralgia; and zinc deficiency, with the
latter being a problem especially for individuals
with diabetes.[37]
Deferasirox
Administration and action
Deferasirox is most commonly marketed
under the brand name Exjade. It has one key
advantage over desferoxamine in that it can be
taken orally in pill form, and so does not
require intravenous or subcutaneous administrati
on. With a terminal elimination half-life of 816
hours, the deferasirox pill can be taken just once
every day. A once-daily dose of 20 mg/kg of
body weight has been found to be sufficient for
most patients for the maintenance of liver iron
concentration (LIC) levels, which are usually
measured as mg of iron per g of liver tissue.
Larger doses may be required for some patients
in order to reduce LIC levels.[41] In a study by
Cappellini et al. it was shown that children
receiving the treatment displayed continual nearnormal growth and development over a 5-year
study period.[42]

Side effects
Deferasirox can, however, have a
wide variety of side effects. These may include
headaches, nausea, vomiting, and joint
pains.[43] Some evidence has been shown of a
link to gastrointestinal disorders experienced by
some people who have received the treatment.[42]
Indicaxanthin
Function
Hb undergoes the following oxidation reaction
during normal controlled breakdown of RBCs:
Hb Oxy-Hb Met-Hb [Perferryl-Hb]
Oxoferryl further oxidation steps
This reaction is experienced by
thalassemic RBCs to a greater extent because,
not only are there more oxidative radicals in
thalassemic blood, but thalassemic RBCs also
have limited antioxidant defense. Indicaxanthin
is able to reduce the perferryl-Hb, a reactive
intermediate, back to met-Hb. The overall effect
of this step is that Hb degradation is prevented,
which helps prevent accelerated breakdown of
RBCs.[44]
In addition, indicaxathin has been shown
to reduce oxidative damage in cells and tissues
and does so by binding to radicals. The
mechanism of its function, however, is still
unknown.[44]
Indicaxanthin
has
high
bioavailability and minimal side effects, like
vomiting or diarrhea.
Carrier detection

A screening policy exists in Cyprus to

reduce the incidence of thalassemia, which
since the program's implementation in the
1970s (which also includes pre-natal
screening and abortion) has reduced the
number of children born with the hereditary
blood disease from 1 out of every 158 births
to almost zero.[45]

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In Iran as a premarital screening, the man's
red cell indices are checked first, if he
has microcytosis (mean cell hemoglobin <
27 pg or mean red cell volume < 80 fl), the
woman is tested. When both are microcytic
their hemoglobin A2 concentrations are
measured. If both have a concentration
above 3.5% (diagnostic of thalassemia trait)
they are referred to the local designated
health post for genetic counseling. [46]
In 2008, in Spain, a baby was
selectively implanted in order to be a cure for his
brother's thalassemia. The child was born from
an embryo screened to be free of the disease
before implantation with In vitro fertilization.
The baby's supply of immunologically
compatible cord blood was saved for
transplantation
to
his
brother.
The
transplantation was considered successful.[47] In
2009, a group of doctors and specialists
in Chennai and Coimbatore registered
the
successful treatment of thalassemia in a child
using a sibling's umbilical cord blood.[48]

curative method called Bone Marrow

Transplantation(BMT) from haploidentical
mother to child (mismatched donor), in which
the donor is the mother. It was invented in 2002
by Dr. Pietro Sodani. The results are these:
thalassemia-free survival rate 70%, rejection
23%, and mortality 7%. The best results are with
very young patients. [48]

Curative methods

References:

Bone marrow transplant (BMT) from compatible

donor
It is possible to be cured, with no more need of
blood transfusions, thanks to Bone Marrow
Transplantation (BMT) from compatible donor,
invented in the 1980s by Prof. Guido Lucarelli.
In low-risk young patients, the thalassemia-free
survival rate is 87%; the mortality risk is
3%.[48] The drawback is that this curative
method requires an HLA-matched compatible
donor.
Bone marrow transplant (BMT)
haploidentical mother to child

from

If the patient does not have an HLAmatched compatible donor such as the first
curative method requires, there is another

Can thalassemia be prevented..? [49]

We cannot prevent thalassemia
because they are inherited (passed from parents
to children through genes). However prenatal
tests can detect these blood disorders before
birth.
Family genetic studies may help to find out
whether people have missing or altered
hemoglobin genes that cause thalassemia.
If you know of family members who
have thalassemia and you are thinking of having
children, consider talking with your doctor and a
genetic counselor. They can help determine your
risk for passing the disorder to your children.

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Cite This Article as:

Sathi babu Talluri et al. An Overview on
Thalassemia ; IRJIPS 2013; 1(1); 01-12.
Source of Support: - Nil, Conflict of
Interest: Nil

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